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Fulltext An unusual first presentation of hypopharyngeal carcinoma as thyroid abscess: Case report of a diagnostic challenge

Tan HY, Sanudin SH, Lum SG, Wong EHC

Int J Surg Case Rep, 2021 Apr;81:105723.
PMID: 33713999 DOI: 10.1016/j.ijscr.2021.105723

BACKGROUND: Hypopharyngeal carcinoma can involve thyroid gland due to their close proximity. However, an initial presentation as a thyroid abscess is rare in this malignancy. To our knowledge, this is the second reported case in the English literature.
CASE PRESENTATION: We described a 45-year-old female who presented with dysphagia, hoarseness and anterior neck swelling. The initial CT scan revealed a right thyroid abscess which was incised and drained with no malignancy found in the biopsy of the thyroid tissue. Patient presented one month later with worsening dysphagia, weight loss and a fungating anterior neck mass. Further investigation revealed a locally advanced hypopharyngeal squamous cell carcinoma extending to the right thyroid, upper oesophagus, prevertebral muscles and bilateral cervical lymph nodes (T4bN2cM0). Unfortunately, the patient passed away prior to initiation of treatment.
CONCLUSION: Clinicians should have raised index of suspicion of a possible underlying hypopharyngeal carcinoma in patients presenting with thyroid abscess and proceed to further investigations in order to ensure early diagnosis and treatment of the malignancy.

Matched MeSH terms: Early Diagnosis
Disseminated microsporidiosis: An underdiagnosed and emerging opportunistic disease

Mohamed Yusoff PS, Osman E, Raja Sabudin RZA

Malays J Pathol, 2021 Apr;43(1):9-18.
PMID: 33903300

Disseminated microsporidiosis is a life-threatening disease resulting from the haematogenous spread of microsporidia species. The diagnosis is challenging owing to its subtle nonspecific clinical presentation, which usually reflects the underlying organ involved. Therefore, a high index of suspicion is required for early diagnosis. Besides, tools for confirmatory laboratory diagnosis are limited. Currently, there is no direct diagnostic method that can detect the infection without involving invasive procedures. Clinical confirmation of disseminated microsporidiosis is usually based on light and transmission electron microscopy of infected tissue specimens. These are then followed by species detection using polymerase chain reaction (PCR). Disseminated microsporidiosis shows the potential to be cleared up by albendazole or fumagillin if they are detected and treated early. Based on a series of case reports, this review aims to present a current update on disseminated microsporidiosis with emphasis on the clinical manifestations based on the organ system infected, diagnostic approach and treatment of this devastating condition.

Matched MeSH terms: Early Diagnosis
Gold-Nanohybrid Biosensors for Analyzing Blood Circulating Clinical Biomacromolecules: Current Trend toward Future Remote Digital Monitoring

Letchumanan I, Gopinath SCB, Md Arshad MK, Mohamed Saheed MS, Perumal V, Voon CH, et al.

Crit Rev Anal Chem, 2020 Sep 08.
PMID: 32897761 DOI: 10.1080/10408347.2020.1812373

Mortality level is worsening the situation worldwide thru blood diseases and greatly jeopardizes the human health with poor diagnostics. Due to the lack of successful generation of early diagnosis, the survival rate is currently lower. To overcome the present hurdle, new diagnostic methods have been choreographed for blood disease biomarkers analyses with the conjunction of ultra-small ideal gold nanohybrids. Gold-hybrids hold varieties of unique features, such as high biocompatibility, increased surface-to-volume ratio, less-toxicity, ease in electron transfer and have a greater localized surface plasmon resonance. Gold-nanocomposites can be physically hybrid on the sensor surface and functionalize with the biomolecules using appropriate chemical conjugations. Revolutionizing biosensor platform can be prominently linked for the nanocomposite applications in the current research on medical diagnosis. This review encloses the new developments in diagnosing blood biomarkers by utilizing the gold-nanohybrids. Further, the current state-of-the-art and the future envision with digital monitoring for facile telediagnosis were narrated.

Matched MeSH terms: Early Diagnosis
An unusual cause of acute abdomen and acute renal failure: Djenkolism

Sumitro K, Yong CS, Tan LT, Choo S, Lim CY, Shariman H, et al.

Malays Fam Physician, 2020;15(2):50-52.
PMID: 32843946

The djenkol bean (Archidendron pauciflorum) is a native delicacy in Southeast Asia, though consumption can sometimes lead to djenkolism. Clinical features of djenkolism include acute abdominal pain, hematuria, urinary retention, and acute kidney injury (AKI). The pain can be severe, which often leads to a misdiagnosis of acute abdomen. In this paper, we report the case of an Indonesian migrant with djenkolism. Due to the short history and severity of the abdominal pain, medical professionals suspected acute abdomen and proceeded with a negative exploratory laparotomy. However, djenkolism was suspected once relatives informed the professionals that the patient had consumed djenkol beans hours earlier. The patient recovered through aggressive hydration and urine alkalinization with bicarbonate infusion. We highlight the importance of being aware of this rare cause of AKI, especially in Southeast Asia, in order to provide early diagnoses and prompt treatments.

Matched MeSH terms: Early Diagnosis
Fulltext Diagnostic and Prognostic Indications of Nasopharyngeal Carcinoma

E A R ENS, Irekeola AA, Yean Yean C

Diagnostics (Basel), 2020 Aug 19;10(9).
PMID: 32825179 DOI: 10.3390/diagnostics10090611

Nasopharyngeal carcinoma (NPC) is a disease that is highly associated with the latent infection of Epstein-Barr virus. The absence of obvious clinical signs at the early stage of the disease has made early diagnosis practically impossible, thereby promoting the establishment and progression of the disease. To enhance the stride for a reliable and less invasive tool for the diagnosis and prognosis of NPC, we synopsize biomarkers belonging to the two most implicated biological domains (oncogenes and tumor suppressors) in NPC disease. Since no single biomarker is sufficient for diagnosis and prognosis, coupled with the fact that the known established methods such as methylation-specific polymerase chain reaction (PCR), multiplex methylation-specific PCR, microarray assays, etc., can only accommodate a few biomarkers, we propose a 10-biomarker panel (KIT, LMP1, PIKC3A, miR-141, and miR-18a/b (oncogenic) and p16, RASSF1A, DAP-kinase, miR-9, and miR-26a (tumor suppressors)) based on their diagnostic and prognostic values. This marker set could be explored in a multilevel or single unified assay for the diagnosis and prognosis of NPC. If carefully harnessed and standardized, it is hoped that the proposed marker set would help transform the diagnostic and prognostic realm of NPC, and ultimately, help prevent the life-threatening late-stage NPC disease.

Matched MeSH terms: Early Diagnosis
Fulltext An Early Reading Assessment Battery for Multilingual Learners in Malaysia

Lee JAC, Lee S, Yusoff NFM, Ong PH, Nordin ZS, Winskel H

Front Psychol, 2020;11:1700.
PMID: 32754104 DOI: 10.3389/fpsyg.2020.01700

The aim of the study was to develop a new comprehensive reading assessment battery for multi-ethnic and multilingual learners in Malaysia. Using this assessment battery, we examined the reliability, validity, and dimensionality of the factors associated with reading difficulties/disabilities in the Malay language, a highly transparent alphabetic orthography. In order to further evaluate the reading assessment battery, we compared results from the assessment battery with those obtained from the Malaysian national screening instrument. In the study, 866 Grade 1 children from multi-ethnic and multilingual backgrounds from 11 government primary schools participated. The reading assessment battery comprised 13 assessments, namely, reading comprehension, spelling, listening comprehension, letter name knowledge, letter name fluency, rapid automatized naming, word reading accuracy, word reading efficiency, oral reading fluency, expressive vocabulary, receptive vocabulary, elision, and phonological memory. High reliability and validity were found for the assessments. An exploratory factor analysis yielded three main constructs: phonological-decoding, sublexical-fluency, and vocabulary-memory. Phonological-decoding was found to be the most reliable construct that distinguished between at-risk and non-at-risk children. Identifying these underlying factors will be useful for detecting children at-risk for developing reading difficulties in the Malay language. In addition, these results highlight the importance of including a range of reading and reading-related measures for the early diagnosis of reading difficulties in this highly transparent orthography.

Matched MeSH terms: Early Diagnosis
Fulltext Health Care Monitoring and Treatment for Coronary Artery Diseases: Challenges and Issues

Alghrairi M, Sulaiman N, Mutashar S

Sensors (Basel), 2020 Aug 01;20(15).
PMID: 32752231 DOI: 10.3390/s20154303

In-stent restenosis concerning the coronary artery refers to the blood clotting-caused re-narrowing of the blocked section of the artery, which is opened using a stent. The failure rate for stents is in the range of 10% to 15%, where they do not remain open, thereby leading to about 40% of the patients with stent implantations requiring repeat procedure within one year, despite increased risk factors and the administration of expensive medicines. Hence, today stent restenosis is a significant cause of deaths globally. Monitoring and treatment matter a lot when it comes to early diagnosis and treatment. A review of the present stent monitoring technology as well as the practical treatment for addressing stent restenosis was conducted. The problems and challenges associated with current stent monitoring technology were illustrated, along with its typical applications. Brief suggestions were given and the progress of stent implants was discussed. It was revealed that prime requisites are needed to achieve good quality implanted stent devices in terms of their size, reliability, etc. This review would positively prompt researchers to augment their efforts towards the expansion of healthcare systems. Lastly, the challenges and concerns associated with nurturing a healthcare system were deliberated with meaningful evaluations.

Matched MeSH terms: Early Diagnosis
Fulltext A case report of gastric volvulus, a rare cause of acute abdomen

Qader AQ, Abdul Hamid H

Radiol Case Rep, 2021 Jul;16(7):1907-1911.
PMID: 34093935 DOI: 10.1016/j.radcr.2021.04.059

Gastric volvulus is an uncommon disorder with an unknown incidence, unless it stays in the back of the diagnostician's mind, diagnosis of gastric volvulus, which can have significant morbidity and mortality associated with it, can be easily missed and can present either in the acute or chronic setting with variable symptoms. When it occurs in the acute scenario, patients present with severe epigastric pain and retching without vomiting. Together with inability to pass nasogastric tube, they constitute Borchardt's triad. The presence of a hiatal hernia with persistent vomiting despite initial antiemetic treatment should trigger one to think of gastric volvulus, despite the patient appearing very stable. We report a case which presented in our hospital with abdominal pain and vomiting. As Oesophagogastroduodenoscopy shows hiatal hernia and peptic ulcer. Primary gastric volvulus occurs in the absence of any defect in the diaphragm or adjacent organ pathology and may be caused by weakening of gastric supports. As conclusion; Gastric volvulus is a surgical case, requiring early diagnosis and aggressive management, as a delay results into complications like gangrene and perforation which substantially increase the morbidity and mortality in these patients, and contrast enhanced computed tomography (CECT) is the best modality for diagnosis of gastric volvulus.

Matched MeSH terms: Early Diagnosis
Fulltext Primary large B cell lymphoma of the parotid gland: case report

Almothafar, B., Wong, L., Noorafidah, M.D.

JUMMEC, 2011;14(1):26-30.
MyJurnal

Primary parotid lymphoma is uncommon and rarely suspected. In most cases, the disease would have disseminated at the time of diagnosis. We describe a case of primary non-Hodgkin’s lymphoma of the parotid gland which progressed to the central nervous system. Clinical history is of limited value in identifying this condition. Diagnostic imaging studies (CT or MRI) may indicate whether or not the mass is salivary in origin but do not help to confirm the diagnosis. In this case, it was deemed that FNA alone is incapable of determining the precise histological subtype for lymphoma, whilst a tru-cut biopsy demonstrated a more sensitive method of determining the diagnosis. The lessons learned from this case would prove useful for other health care providers to make an early diagnosis and hopefully manage more effectively if similar conditions appear in their practice. Performing the appropriate measures can help to not only improve the prognosis but may even avert the prospect of unnecessary surgery.

Matched MeSH terms: Early Diagnosis
Fulltext Diabetic ketoacidosis at diagnosis of type 1 diabetes mellitus in Malaysian children and adolescents

Hong JYH, Jalaludin MY, Mohamad Adam B, Fuziah MZ, Wu LL, Rasat R, et al.

Malays Fam Physician, 2015;10(3):11-18.
PMID: 27570603 MyJurnal

Background: Diabetic ketoacidosis (DKA) is a late presentation of newly diagnosed type 1 diabetes mellitus (DM) in children. The aim of this study was to determine the clinical characteristics of type 1 DM at presentation so that appropriate actions can be taken to promote early diagnosis.
Methods: This was a retrospective cohort review from a patient registry database. Data on all patients younger than 20 years old diagnosed with type 1 DM who had been registered with the Malaysian Diabetes in Children and Adolescents Registry (DiCARE) from its inception in 2006 until 2009 were analysed.
Results: The study included 490 children and adolescents, out of which 57.1% were female. The mean (SD) age at diagnosis was 7.5 (3.7) years, which increased from year 2000 to 2009 [6.6 (3.3) years to 9.6 (3.5) years; p = 0.001]. An increasing percentage of DKA at diagnosis was observed from year 2000 (54.5%) to year 2009 (66.7%), which remained high and leveled between 54.5% and 75.0%. DKA was more common in patients with normal weight (p = 0.002) with no significant association with age, gender, ethnicity and status of family history of diabetes mellitus.
Conclusion: An increasing trend of age at diagnosis of patients with type 1 DM was observed. Besides that, proportion of DKA at diagnosis had remained high over the past decade. This study found that normal weight was associated with status of DKA, thus more detailed investigations are required to determine the risk factors for DKA.

Matched MeSH terms: Early Diagnosis
Fulltext Holistic management of chronic obstructive pulmonary disease in primary care

Tengku Saifudin TI, Wan Haniza WM

Malays Fam Physician, 2010;5(3):119-125.
MyJurnal

Chronic obstructive pulmonary disease (COPD) is a major respiratory illness in Malaysia that is mainly preventable and treatable but unfortunately remains largely undiagnosed. Primary care providers play a vital role in screening the population at risk, making an early diagnosis and initiating prompt and appropriate therapy including smoking cessation to improve symptoms and quality of life of the COPD patient. Measures to prevent and treat exacerbations are also important to prevent further rapid decline in lung function and to reduce morbidity and mortality associated with the disease.

Matched MeSH terms: Early Diagnosis
Fulltext The Clinical Effectiveness of School Screening Programme for Idiopathic Scoliosis in Malaysia

Deepak AS, Ong JY, Choon D, Lee CK, Chiu CK, Chan C, et al.

Malays Orthop J, 2017 Mar;11(1):41-46.
PMID: 28435573 MyJurnal DOI: 10.5704/MOJ.1703.018

INTRODUCTION: There is no large population size study on school screening for scoliosis in Malaysia. This study is aimed to determine the prevalence rate and positive predictive value (PPV) of screening programme for adolescent idiopathic scoliosis.
MATERIALS AND METHODS: A total of 8966 voluntary school students aged 13-15 years old were recruited for scoliosis screening. Screening was done by measuring the angle of trunk rotation (ATR) on forward bending test (FBT) using a scoliometer. ATR of 5 degrees or more was considered positive. Positively screened students had standard radiographs done for measurement of the Cobb angle. Cobb angle of >10° was used to diagnose scoliosis. The percentage of radiological assessment referral, prevalence rate and PPV of scoliosis were then calculated.
RESULTS: Percentage of radiological assessment referral (ATR >5°) was 4.2% (182/4381) for male and 5.0% (228/4585) for female. Only 38.0% of those with ATR >5° presented for further radiological assessment. The adjusted prevalence rate was 2.55% for Cobb angle >10°, 0.59% for >20° and 0.12% for >40°. The PPV is 55.8% for Cobb angle >10°, 12.8% for >20° and 2.6% for > 40°.
CONCLUSIONS: This is the largest study of school scoliosis screening in Malaysia. The prevalence rate of scoliosis was 2.55%. The positive predictive value was 55.8%, which is adequate to suggest that the school scoliosis screening programme did play a role in early detection of scoliosis. However, a cost effectiveness analysis will be needed to firmly determine its efficacy.

Matched MeSH terms: Early Diagnosis
The Economic Impact of Managing Late Presentation of Developmental Dysplasia of Hip (DDH)

Anuar R, Mohd-Hisyamudin HP, Ahmad MH, Zulkiflee O

Malays Orthop J, 2015 Nov;9(3):40-43.
PMID: 28611908 MyJurnal DOI: 10.5704/MOJ.1511.006

Delayed presentation of Developmental Dysplasia of Hip (DDH) comes with challenges in treatment as well as high surgical cost. Therefore the objective of this study is to quantify the economic impact of management of late presentation of DDH during a last 3-year period. We conducted a retrospective study with analysis of DDH cases managed between years 2012 to 2014. Early and late presentations of DDH were identified and cost management for both was estimated. Out of twenty-four DDH cases, thirteen cases fulfilled the inclusion criteria. All were female with majority of them presenting with unilateral DDH predominantly of the left hip. Most patients presented after age of six months and the principal complaint was abnormal or limping gait. The grand total cost for managing DDH during the three years period was USD 12,385.51, with 86% of the amount having been used to manage late presentation of DDH that was mostly contributed by the cost of surgery. We concluded that delayed presentation of DDH contributes heavily to high national expenditure. Early detection of DDH cases with systematic neonatal screening may help to minimize the incidence of the late presenting DDH and subsequently reduce the economic burden to the government.

Matched MeSH terms: Early Diagnosis
Late diagnosis of congenital hypothyroidism : the case for newborn screening

Tan, Kah Kee, Kaur, Pyar

Malaysian Journal of Child Health, 1994;6(1):36-39.
MyJurnal

26 cases of congenital hypothyroidism were diagnosed at the Penang General Hospital from 1979 to 1993. Therewere 19 femalesand7males, thefemaletomaleratiowas2 .7 : 1. All three main ethnic groups were almost equally afflicted (10 Chinese,8Malays,8 Indians). The mean age at diagnosis was 15.8 months (range 21 days — 9 years) and only 11 (42.3%) patients were diagnosed within thefirst three months of life. 19 (73.7%) patients were diagnosed within thefirstyear and 7 (26.3%) after the firstyear. The correct referral diagnosis was made in less than half (n = 11) of the patients, with a mean of 2.3 doctors being consulted prior to the diagnosis. The five most common clinical features were coarse facies (n = 22), dry skin (n = 22), macroglossia (n = 21), lethargy (n = 20) and constipation (n = 19). The develop-ment quotient was appropriate for chronologi-cal age in less than one third (n = 8) of patients while the school performance was at least average in only less than one third (n = 5) of school-goers (n = 16). The mean (SD) T4 at diagnosis was 23.7 (12.2) nmollL while the mean (SD) TSH at diagnosis was 72.7 (37.0) mUIL. In the light of these clinical findings, screening for congenital hypothyroidism with a view to early diagnosis and prompt treatment are strongly recommended.

Matched MeSH terms: Early Diagnosis
Fulltext Multiple acute aortic dissection in a young adult

Kosai, N.R., Reynu, R., Abdikarim, M., Abdikarim, M., Taher, M.M., Idris, M.A., et al.

Medicine & Health, 2014;9(2):143-149.
MyJurnal

The diagnosis of aortic dissection in a young adult in the absence of atherosclerosis or prior history of trauma is extremely rare. The presence of more than one arterial dissection site in such a patient is even more unheard of. We highlight a case of spontaneous multiple acute arterial dissections occurring in a 32-year-old male. Stanford B aortic dissection and a separate dissection extending from the bifurcation of the right common iliac artery to the right common femoral artery was noted on computed tomographic angiography (CTA). A small aneurysm of the right subclavian artery was also noted. A two-stage hybrid procedure involving a combination of open and endovascular surgery was employed. The rarity and lethality of this condition warrants a high index of suspicion for early diagnosis and prompt intervention.

Matched MeSH terms: Early Diagnosis
Fulltext Spinal tuberculous disease is common in tuberculous meningitis

Tai, Sharon Mei-Ling, Hazman Mohd Nor, Kartini Rahmat, Pow, Zhen Yuan, Ong, Lay Sim, Tan, Chong Tin, et al.

Neurology Asia, 2017;22(4):313-323.
MyJurnal

Background: Tuberculous disease of spine (spinal TB) is under-recognized in tuberculous (TB) meningitis.
The objective of the study was to evaluate the frequency, clinical and neuroimaging changes, and
outcome in the patients with spinal TB.

Methods: All the patients with spinal TB admitted in the two
largest tertiary hospitals in Kuala Lumpur from 2009 to 2017 were recruited, the clinical features were
documented, the magnetic resonance imaging (MRI) of the spine was performed. Clinical outcome was
assessed with Modified Rankin scale (MRS).

Results: Twenty two patients were recruited. This was
out of 70 TB meningitis patients (31.4%) seen over the same period. Eighteen (81.8%) patients had
concomitant TB meningitis. The clinical features consisted of systemic symptoms with fever (63.6%),
meningitis symptoms with altered sensorium (45.5%), myelopathy with paraparesis (36.4%). The
findings on spinal MRI were discitis (36.4%), spinal meningeal enhancement (31.8%), spinal cord
compression (31.8%), psoas abscess (27.3%), osteomyelitis (22.7%), and cord oedema (22.7%). All
except two patients (90.9%) had involvement in psoas muscle, bone or leptomeningeal enhancement,
features that can be used to differentiate from myelopathy that affect the parenchyma only, such as
demyelination. Unusual manifestations were syringomyelia and paradoxical manifestations seen in 3
patients each. The outcome were overall poor, with 68% having MRS 3 or more.

Conclusion: Spinal TB is common in TB meningitis. The outcome is overall poor. A heightened
awareness is crucial to enable early diagnosis and treatment.

Matched MeSH terms: Early Diagnosis
Fulltext Fat embolism syndrome treated with methylprednisolone: a different perception or a misconception?

Mohd Shaffid Md Shariff, Hanizah Ngadiron, Firdaus Hayati, Affirul Chairil Ariffin

Borneo Journal of Medical Sciences, 2017;11(3):45-48.
MyJurnal

Fat embolism syndrome is manifested by the fat globule presence in the pulmonary and systemic circulation. A 34-year-old man was involved in a motor vehicle accident with a fracture of the left femur and avulsion fracture of the left posterior cruciate ligaments. He developed signs and symptoms that suggested an early diagnosis of fat embolism syndrome. Intravenous methylprednisolone administration was administered as part of the treatment. The role of methylprednisolone in a patient with fat embolism syndrome is controversial due to unproven effectiveness. In this case, fat embolism syndrome after a femur fracture was treated successfully with methylprednisolone.

Matched MeSH terms: Early Diagnosis
Serum Procalcitonin Predicts Anastomotic Leaks in Colorectal Surgery

Hayati F, Mohd Azman ZA, Nasuruddin DN, Mazlan L, Zakaria AD, Sagap I

Asian Pac J Cancer Prev, 2017 07 27;18(7):1821-1825.
PMID: 28749112

Background: Anastomotic leaks in colorectal surgery results in a high morbidity and mortality rate. Serum procalcitonin levels is known as a sensitive and specific marker of sepsis and could be use as a marker for early detection of a leak allowing early intervention. It may help a clinician decide to perform a CT scan even earlier especially when the diagnosis of a leak is uncertain. The aim of this study is to determine whether serum procalcitonin is a good predictor of anastomotic leak in colorectal surgery. Methodology: Between July 2014 until October 2015, 70 patients undergoing colorectal surgery were prospectively analyzed in a single-center tertiary teaching hospital. Demographic and surgical data were obtained. Serum procalcitonin was taken before surgery and at day 3 (72 hours) postoperatively. During the postoperative period, the patients were observed in the ward for features of anastomotic leak and if present, it was managed accordingly. The primary outcome was to prospectively determine an association between serum procalcitonin levels and an anastomotic leak in patients who underwent colorectal surgery with a primary anastomosis. Result: The rate of anastomotic leak was 4.5% (3 patients) with a mortality rate of 4.3% (3 patients). A rise in serum procalcitonin was statistically significant among patients with anastomotic leak. The optimal procalcitonin cut-off level at postoperative day 3 was 5.27 ng/mL, resulting in 100% sensitivity, 85% specificity, 23% positive predictive value and 100% negative predictive value. Nevertheless, none of the variables showed statistical significance with an anastomotic leak. Conclusion: Procalcitonin is a reliable biochemical marker to help diagnose anastomotic leak in colorectal surgery. Our study has shown that a level of 5 times beyond normal is statistically significant and a value of more than 5.27 ng/mL is confirmatory of a leak.

Matched MeSH terms: Early Diagnosis
Fulltext Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

Abdul Wahab SA, Yakob Y, Abdul Azize NA, Md Yunus Z, Huey Yin L, Mohd Khalid MK, et al.

Biomed Res Int, 2016;2016:4074365.
PMID: 27672653

Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by the GCDH gene. In this study, we presented the clinical and molecular findings of seven GA1 patients in Malaysia. All the patients were symptomatic from infancy and diagnosed clinically from large excretion of glutaric and 3-hydroxyglutaric acids. Bidirectional sequencing of the GCDH gene revealed ten mutations, three of which were novel (Gln76Pro, Glu131Val, and Gly390Trp). The spectrum of mutations included eight missense mutations, a nonsense mutation, and a splice site mutation. Two mutations (Gln76Pro and Arg386Gln) were homozygous in two patients with parental consanguinity. All mutations were predicted to be disease causing by MutationTaster2. In conclusion, this is the first report of both clinical and molecular aspects of GA1 in Malaysian patients. Despite the lack of genotype and phenotype correlation, early diagnosis and timely treatment remained the most important determinant of patient outcome.

Matched MeSH terms: Early Diagnosis
Fulltext Pathogenic role of immune cells in rheumatoid arthritis: implications in clinical treatment and biomarker development

Yap HY, Tee SZ, Wong MM, Chow SK, Peh SC, Teow SY

Cells, 2018 Oct 09;7(10).
PMID: 30304822 DOI: 10.3390/cells7100161

Rheumatoid arthritis (RA) is a chronic, autoimmune, systemic, inflammatory disorder that affects synovial joints, both small and large joints, in a symmetric pattern. This disorder usually does not directly cause death but significantly reduces the quality of life and life expectancy of patients if left untreated. There is no cure for RA but, patients are usually on long-term disease modifying anti-rheumatic drugs (DMARDs) to suppress the joint inflammation, to minimize joint damage, to preserve joint function, and to keep the disease in remission. RA is strongly associated with various immune cells and each of the cell type contributes differently to the disease pathogenesis. Several types of immunomodulatory molecules mainly cytokines secreted from immune cells mediate pathogenesis of RA, hence complicating the disease treatment and management. There are various treatments for RA depending on the severity of the disease and more importantly, the patient's response towards the given drugs. Early diagnosis of RA and treatment with (DMARDs) are known to significantly improve the treatment outcome of patients. Sensitive biomarkers are crucial in early detection of disease as well as to monitor the disease activity and progress. This review aims to discuss the pathogenic role of various immune cells and immunological molecules in RA. This review also highlights the importance of understanding the immune cells in treating RA and in exploring novel biomarkers.

Matched MeSH terms: Early Diagnosis

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