MyMedR

Fulltext Primary Mycobacterium avium Enteritis in a Patient Infected with Human Immunodeficiency Virus

Chang CY

Rev Soc Bras Med Trop, 2021;54:e03342021.

PMID: 34431951 DOI: 10.1590/0037-8682-0334-2021

Matched MeSH terms: Acquired Immunodeficiency Syndrome*

Fulltext A 15-year single centre retrospective study of antiphospholipid syndrome patients from Northern Malaysia

Islam MA, Alam F, Gan SH, Sasongko TH, Wan Ghazali WS, Wong KK

Malays J Pathol, 2017 08;39(2):123-133.

PMID: 28866693 MyJurnal

BACKGROUND: Antiphospholipid syndrome (APS) is an autoimmune disorder characterised by thrombosis and/or pregnancy morbidity in the presence of antiphospholipid antibodies (aPLs) based on the Sydney criteria. We aimed to explore the clinico-laboratory features and treatment strategies of APS patients retrospectively.
METHODOLOGY: The medical records of APS patients registered under Hospital Universiti Sains Malaysia (Kelantan state) between 2000 and 2015 were reviewed.
RESULTS: A total of 17 APS subjects (age 40.7 ± 12.8 years) including 11 primary (64.7%) and six secondary APS (35.3%) patients were identified. The follow-up period was 9.5 ± 6.7 years with male:female ratio of 1.0:4.7. Pregnancy morbidity was the most common clinical manifestation (11/14; 78.6%) followed by recurrent venous thrombosis (10/17; 58.8%). For other clinical features, menorrhagia was the most frequently observed manifestation (4/14; 28.6%) followed by aPLs-associated thrombocytopenia (4/17; 23.5%) and ovarian cyst (3/14; 21.4%). LA and aCL were positive in 94.1% (16/17) and 81.8% (9/11) of the patients, respectively. APTT value (76.7 ± 17.0 sec) was significantly high (p < 0.05). Low intensity warfarin alone was successful to maintain target INR (2.0 - 3.0) and prevent recurrence of thrombosis.
CONCLUSION: The tendency of pregnancy morbidity in this cohort of Malaysian Kelantanese APS patients was high compared to other previously reported APS cohorts. Low intensity warfarin was successful in preventing recurrence of thrombosis, however, APS women receiving long-term anticoagulants should be monitored for possible occurrence of menorrhagia and ovarian cysts.

Matched MeSH terms: Antiphospholipid Syndrome*

The Potential of ChatGPT in Assisting Children with Down Syndrome

Yang J, Por LY, Leong MC, Ku CS

Ann Biomed Eng, 2023 Dec;51(12):2638-2640.

PMID: 37332002 DOI: 10.1007/s10439-023-03281-3

ChatGPT, an advanced language generation model developed by OpenAI, has the potential to revolutionize healthcare delivery and support for individuals with various conditions, including Down syndrome. This article explores the applications of ChatGPT in assisting children with Down syndrome, highlighting the benefits it can bring to their education, social interaction, and overall well-being. While acknowledging the challenges and limitations, we examine how ChatGPT can be utilized as a valuable tool in enhancing the lives of these children, promoting their cognitive development, and supporting their unique needs.

Matched MeSH terms: Down Syndrome*

A typical clinical manifestation of atypical underlying diagnosis: Answers

B N, Cj NA, Mk AM, I MI

Pediatr Nephrol, 2023 Nov;38(11):3615-3617.

PMID: 37160459 DOI: 10.1007/s00467-023-05967-1

Matched MeSH terms: Atypical Hemolytic Uremic Syndrome*

Pooled rates and demographics of POTS following SARS-CoV-2 infection versus COVID-19 vaccination: Systematic review and meta-analysis

Yong SJ, Halim A, Liu S, Halim M, Alshehri AA, Alshahrani MA, et al.

Auton Neurosci, 2023 Dec;250:103132.

PMID: 38000119 DOI: 10.1016/j.autneu.2023.103132

PURPOSE: To address recent concerns of postural orthostatic tachycardia syndrome (POTS) occurring after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and coronavirus disease 2019 (COVID-19) vaccination.

METHODS: We searched PubMed, Web of Science, and Scopus as of 1st June 2023. We performed a systematic review and meta-analysis of pooled POTS rate in SARS-CoV-2-infected and COVID-19-vaccinated groups from epidemiological studies, followed by subgroup analyses by characteristic. Meta-analysis of risk ratio was conducted to compare POTS rate in infected versus uninfected groups. Meta-analysis of demographics was also performed to compare cases of post-infection and post-vaccination POTS from case reports and series.

RESULTS: We estimated the pooled POTS rate of 107.75 (95 % CI: 9.73 to 273.52) and 3.94 (95 % CI: 0 to 16.39) cases per 10,000 (i.e., 1.08 % and 0.039 %) in infected and vaccinated individuals based on 5 and 2 studies, respectively. Meta-regression revealed age as a significant variable influencing 86.2 % variance of the pooled POTS rate in infected population (P

Matched MeSH terms: Postural Orthostatic Tachycardia Syndrome*

Case Report: Callosal disconnection syndrome manifesting as mixed frontal-callosal-posterior alien hand syndrome following extensive corpus callosum infarct

Zainudin MF, Soo KC, Nyein Yin K

F1000Res, 2023;12:529.

PMID: 38716229 DOI: 10.12688/f1000research.133838.1

Alien hand syndrome (AHS) is a rare neurological phenomenon first described by Goldstein over a century ago. The most widely recognized variants in literature are frontal, callosal, and posterior AHS. AHS due to the corpus callosum lesion can occur alone or as part of callosal disconnection syndrome (CDS). This report presents a unique CDS case manifesting clinical features from all three AHS variants, resulting from an extensive corpus callosum infarct. Our patient exhibited various clinical features from the three AHS variants, which include grasping, groping, and difficulty releasing objects from the hand (anterior); intermanual conflict (callosal); arm levitation, mild hemiparesis, and hemisensory loss (posterior). Additionally, the extensive disruption of the corpus callosal fibers produced neurological manifestations of CDS, such as cognitive impairment, ideomotor and constructional apraxia, behavioral disorder, and transcortical motor aphasia. We employed a range of rehabilitation interventions, such as mirror box therapy, limb restraint strategy, verbal cue training, cognitive behavioral therapy, bimanual hand training, speech and language therapy, and pharmacological treatment with clonazepam. The patient showed almost complete resolution of CDS and AHS features by nine months post-stroke Our case report highlights distinctive clinical variations of AHS and the challenging correlation between clinical manifestations and neuroanatomical substrates. Future studies are necessary to explore the intricate neural connections and the precise function of the corpus callosum. This can be achieved by combining comprehensive neuropsychological testing with diffusion tensor tractography studies. It is also essential to develop a validated tool to standardize AHS assessment. Finally, the scarcity of evidence in rehabilitation interventions necessitates further studies to address the wide knowledge gap in AHS and CDS management.

Matched MeSH terms: Alien Hand Syndrome*

Cardiorenal syndrome: a complex series of combined heart/kidney disorders

Goh CY, Vizzi G, De Cal M, Ronco C

Contrib Nephrol, 2011;174:33-45.

PMID: 21921607 DOI: 10.1159/000329233

Over the last decade, it has become increasingly clear that the cardiovascular and renal systems are interdependent. Primary disorders of either system have been shown to disturb the other system. As a result, a class of cardiorenal syndrome (CRS) has been identified where in a vicious cycle is established in which acute/chronic dysfunction of either the kidney or the heart exacerbates the loss of function in the other organ. The ADQI organization has proposed a classification derived from a consensus conference held in 2008. CRS is classified as a disorder of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction in the other. The general definition has been expanded into five subtypes: CRS type 1 = acute worsening of heart function (acute heart failure-acute coronary syndrome) leading to kidney injury and/or dysfunction; CRS type 2 = chronic abnormalities in heart function (chronic heart failure-chronic heart disease) leading to kidney injury or dysfunction; CRS type 3 = acute worsening of kidney function (acute kidney injury) leading to heart injury and/or dysfunction; CRS type 4 = chronic kidney disease (chronic kidney disease) leading to heart injury, disease and/or dysfunction; and CRS type 5 = systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. A major problem with previous terminology was that it did not allow for identification of pathophysiological interactions occurring in the different types of combined heart/kidney disorders. The subdivision into different subtypes seems to provide a better approach to this syndrome.

Matched MeSH terms: Cardio-Renal Syndrome/classification*; Cardio-Renal Syndrome/diagnosis; Cardio-Renal Syndrome/physiopathology; Cardio-Renal Syndrome/therapy

An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease

Zhang L, El-Shabrawi M, Baur LA, Byrne CD, Targher G, Kehar M, et al.

Med, 2024 Jul 12;5(7):797-815.e2.

PMID: 38677287 DOI: 10.1016/j.medj.2024.03.017

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is highly prevalent in children and adolescents, particularly those with obesity. NAFLD is considered a hepatic manifestation of the metabolic syndrome due to its close associations with abdominal obesity, insulin resistance, and atherogenic dyslipidemia. Experts have proposed an alternative terminology, metabolic dysfunction-associated fatty liver disease (MAFLD), to better reflect its pathophysiology. This study aimed to develop consensus statements and recommendations for pediatric MAFLD through collaboration among international experts.

METHODS: A group of 65 experts from 35 countries and six continents, including pediatricians, hepatologists, and endocrinologists, participated in a consensus development process. The process encompassed various aspects of pediatric MAFLD, including epidemiology, mechanisms, screening, and management.

FINDINGS: In round 1, we received 65 surveys from 35 countries and analyzed these results, which informed us that 73.3% of respondents agreed with 20 draft statements while 23.8% agreed somewhat. The mean percentage of agreement or somewhat agreement increased to 80.85% and 15.75%, respectively, in round 2. The final statements covered a wide range of topics related to epidemiology, pathophysiology, and strategies for screening and managing pediatric MAFLD.

CONCLUSIONS: The consensus statements and recommendations developed by an international expert panel serve to optimize clinical outcomes and improve the quality of life for children and adolescents with MAFLD. These findings emphasize the need for standardized approaches in diagnosing and treating pediatric MAFLD.

FUNDING: This work was funded by the National Natural Science Foundation of China (82070588, 82370577), the National Key R&D Program of China (2023YFA1800801), National High Level Hospital Clinical Research Funding (2022-PUMCH-C-014), the Wuxi Taihu Talent Plan (DJTD202106), and the Medical Key Discipline Program of Wuxi Health Commission (ZDXK2021007).

Matched MeSH terms: Metabolic Syndrome X/diagnosis; Metabolic Syndrome X/metabolism; Metabolic Syndrome X/epidemiology; Metabolic Syndrome X/therapy

Cryptic antiphospholipid autoantibodies and serum co-inhibitors

Cheng HM

Autoimmunity, 1994;19(2):127-33.

PMID: 7772702 DOI: 10.3109/08916939409009540

Matched MeSH terms: Antiphospholipid Syndrome/blood; Antiphospholipid Syndrome/immunology

Kasabach-Merritt syndrome and Down's syndrome

Ram SP

J R Soc Med, 1997 Mar;90(3):159-60.

PMID: 9135617

Matched MeSH terms: Down Syndrome*; Syndrome

Fulltext Rett syndrome--two case reports

Siew HF, Rani JM

Med J Malaysia, 1991 Jun;46(2):192-8.

PMID: 1839426

Two cases of girls seen in Sarawak with the diagnosis of Rett Syndrome are reported. Their ages were 6 and 2 years respectively at the time of the report. Diagnosis is made clinically as there is as yet no scientific marker. Specific diagnostic criteria were met. There was a history of slowing of development followed by loss of previously acquired skills, changes in emotional development and behaviour and the definite emergency of stereotyped behaviour especially hand wringing in both girls. Onset was early in both girls, around nine months. Both girls are profoundly retarded mentally but the regression appeared to be static at present.

Matched MeSH terms: Rett Syndrome/diagnosis*; Rett Syndrome/psychology

Cover Image, Volume 173A, Number 4, April 2017

Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, et al.

Am J Med Genet A, 2017 Apr;173(4):i.

PMID: 28328119 DOI: 10.1002/ajmg.a.38224

The cover image, by Paul Kruszka et al., is based on the Original Article 22q11.2 deletion syndrome in diverse populations, DOI: 10.1002/ajmg.a.38199. Individual images are property of the National Human Genome Research Institute and are in the public domain.

Matched MeSH terms: DiGeorge Syndrome/genetics; DiGeorge Syndrome/pathology*

The testicular feminisation syndrome

Teoh SK

Med J Malaysia, 1976 Sep;31(1):59-64.

PMID: 1023015

Matched MeSH terms: Androgen-Insensitivity Syndrome/diagnosis*; Androgen-Insensitivity Syndrome/physiopathology

Fulltext Growing teratoma syndrome: a rare case report and review of the literature

Kampan N, Irianta T, Djuana A, Pei Shan L, Hashim Omar M, Hatta Mohd Dali AZ

Case Rep Obstet Gynecol, 2012;2012:134032.

PMID: 22645693 DOI: 10.1155/2012/134032

Growing teratoma syndrome is rare and usually it occurs in the younger aged group. The use of chemotherapy following initial surgical resection will yield the diagnosis following tumour enlargement. Complete resection is usually curative and renders better prognosis.

Matched MeSH terms: Syndrome

Fulltext AMSAN variant of Guillain Barre syndrome progressing to chronic inflammatory demyelinating polyneuropathy in a patient with Marfan's syndrome and pulmonary tuberculosis

Soehardy Z, Yuhanisa A, Thein SS, Rohana AG, Fauzi AR, Norlinah MI, et al.

Med J Malaysia, 2005 Dec;60(5):655-6.

PMID: 16515122

We report a 40-year-old man who has Marfan's syndrome and was recently diagnosed to have pulmonary tuberculosis when he presented with chronic cough. He was admitted with bilateral lower limb weakness which was ascending in nature. He eventually required ventilation. It was initially thought to be isoniazid-neuropathy. However, stopping the drug did not improve the condition and the patient developed bilateral lower motor neuron 7th cranial nerve palsy. Nerve conduction, MRI and CSF studies were done to confirm a first case report of AMSAN variant progressing to CIDP in a patient with Marfan's syndrome and pulmonary tuberculosis.

Matched MeSH terms: Marfan Syndrome/complications*; Guillain-Barre Syndrome/complications*

Bilateral ovarian cysts in a newborn: a case report

Lim CT, Wong KK, Yap YF, Sivanesaratnam V

Asia Oceania J Obstet Gynaecol, 1992 Mar;18(1):19-22.

PMID: 1627057

Large ovarian cysts in the fetus are uncommon. Ultrasonography has helped in the detection of these cysts antenatally and in the newborn female infant. A case of bilateral ovarian cysts in a newborn is presented. The choice of management between conservative measures and surgical approaches remains controversial.

Matched MeSH terms: Polycystic Ovary Syndrome/congenital*; Polycystic Ovary Syndrome/diagnosis; Polycystic Ovary Syndrome/surgery

Fulltext Renal vein thrombosis and the nephrotic syndrome

Segasothy M, Kamal A, Pang KS

Med J Malaysia, 1983 Jun;38(2):114-7.

PMID: 6621439

A 31 year old Chinese man developed the nephrotic syndrome, and wasfound to have some of the clinical features of renal vein thrombosis such as a rapid deterioration in renal function and great variability in proteinuria. Radiological studies confirmed the diagnosis of bilateral renal vein thrombosis. The clinical features and pathogenesis of renal vein thrombosis are discussed.

Matched MeSH terms: Nephrotic Syndrome/complications*; Nephrotic Syndrome/diagnosis; Nephrotic Syndrome/pathology

Fulltext Marfan or marfanoid: a case study

Tai YS

Med J Malaysia, 1986 Sep;41(3):233-5.

PMID: 3670140

A patient with marfanoid habitus was admitted to the General Hospital, Kuala Lumpur in October 1985 for surgical closure of an atrial septal defect. He was suspected to have Marfan Syndrome but there was no involvement of the aorta nor the eye. The clinical features were intermediate between that of the Marfan Syndrome and the Ehler's Danlos Syndrome. It is suggested that this could be a separate distinct entity within the heritable disorders of connective tissue known as the Marfanoid Hypermobility Syndrome.

Matched MeSH terms: Ehlers-Danlos Syndrome/diagnosis*; Marfan Syndrome/diagnosis*

Fulltext Morbidity in Alagille syndrome in 6 Malaysian children

Lim CB, Choy YS

Med J Malaysia, 2003 Dec;58(5):641-6.

PMID: 15190647 MyJurnal

We retrospectively studied the records of 6 Malaysian children who were diagnosed with Alagille Syndrome (AGS) according to this criteria from January 1999 to January 2001, at the Institute of Paediatrics, Kuala Lumpur Hospital. Four patients (66%) had a positive family history. Thirteen individuals (6 patients and 7 relatives) were diagnosed with AGS in these 5 families. Only 6/13 (46%) of them presented with liver involvement. All 6 patients presented with typical facies and cholestasis (100%). Three (50%) presented with portal hypertension (PHT) with synthetic liver dysfunction (1 died), 1/6 (17%) have PHT and normal synthetic liver function. Two have cleared their jaundice but have biochemical evidence of hepatitis and hepatomegaly, four have congenital heart disease 5/6 posterior embryotoxon, 2/6 butterfly vertebrae, 4/6 hyperlipidaemia and 4/6 failure to thrive. One patient has a Jagged-1 gene disruption at the translocation breakpoint locus 20p12.3 2n = 46,XX,t(12.20) (q22, p12.3). 5/6 (83%) are still alive. Two-thirds of our patients developed chronic liver disease by 3 years of age. Two-thirds of the index patients have a family history. Only 46% of individuals in these families have clinical evidence of liver involvement. Mortality depends on cardiac/renal disease, end-stage liver failure and intercurrent infection.

Matched MeSH terms: Alagille Syndrome/complications; Alagille Syndrome/genetics; Alagille Syndrome/physiopathology*

Fulltext An unusual presentation of sphenoid Candida fungal ball: a case report

Tuang GJ, Zahedi FD, Akashah I, Lee JPH, Abidin ZAZ

J Surg Case Rep, 2019 Aug;2019(8):rjz240.

PMID: 31423297 DOI: 10.1093/jscr/rjz240

The clinical presentation of a sphenoid fungal ball (FB) is often non-specific and tends to be overlooked, particularly in hosts with an intact immune status. Rarely, potentially life-threatening complications may arise, owning its anatomical characteristics with contiguous structures. Herein, we present an unusual case of sphenoid FB complicated with orbital apex syndrome in an immunocompetent patient. The diagnosis dilemma and subsequent management are further discussed.

Matched MeSH terms: Syndrome

Displaying publications 21 - 40 of 1521 in total