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Fulltext Trisomy X and myelodysplastic syndrome (MDS) with eosinophilia

Eusni, R.M.T., Leong, C.F., Salwa, S.

Malaysian Journal of Medicine and Health Sciences, 2012;8(2):65-67.
MyJurnal

We reported a young patient with myelodysplastic syndrome (MDS) with eosinophilia, in which her chromosomal analysis revealed the presence of trisomy X and a marker chromosome at chromosome 11. The technique used to detect the chromosomal abnormalities is a multicoloured –fluorescent in situ hybridization technique (M-FISH). Our observation suggested that these underlying chromosomal abnormalities were probably responsible for her development of MDS with eosinophilia.
Myelodysplastic syndrome (MDS) is a condition whereby there is ineffective production of haematopoietic stem cells and poor quality of cells produced. The cause can either be a primary bone marrow problem, de novo or therapy related. Most MDS cases are secondary rather than primary. Many chromosomal abnormalities have been found in cases of myelodysplastic syndrome. We described a case of MDS with eosinophilia in association with presence of trisomy X and a marker chromosome in chromosome 11.

Matched MeSH terms: Sex Chromosome Disorders of Sex Development
Fulltext Significance of a clean-tip catheter closed suctioning system in a high-setting ventilated, super morbidly obese patient with profuse respiratory secretions

Mazlan MZ, Mohd Zaini RH, Hassan SK, Ali S, Che Omar S, Wan Hassan WMN

Respir Med Case Rep, 2017;21:129-131.
PMID: 28487824 DOI: 10.1016/j.rmcr.2017.04.014

INTRODUCTION: Closed suctioning is commonly used in the context of high-setting mechanical ventilation (MV), given its ability to prevent lung volume loss that otherwise accompanies open suctioning. However, closed suctioning systems (CSS) are not equivalent regarding components and capabilities, and thus this technique may be differentially effective to adequately clear patient secretions from an endotracheal tube (ETT), which is of paramount importance when the tube size makes the ETT particularly vulnerable to block by patient secretions.
CASE PRESENTATION: A 25-year-old super morbidly obese female (body mass index = 55 kg/meter2) presented with worsening shortness of breath. For MV, pairing of a 6 mm (mm) diameter ETT to accommodate the patient's vocal cord edema, with a CSS not designed to maintain a clean catheter tip, precipitated ETT blockage and respiratory acidosis. Replacement of these devices with a 6.5 mm ETT and a CSS designed to keep the catheter tip clean resolved the complications. After use of the different ETT and CSS for approximately one week, the patient was discharged to home.
DISCUSSION: The clean-tip catheter CSS enabled a more patent airway than its counterpart device that did not have this feature. Use of a clean-tip catheter CSS was an important care development for this patient, because this individual's super morbidly obese condition minimized tolerance for MV complications that would exacerbate her pre-existing tenuous respiratory health status.
CONCLUSION: Special attention should be given to the choices of ETT size and CSS to manage super morbidly obese patients who have a history of difficult airway access.

Matched MeSH terms: Sex Chromosome Disorders of Sex Development
Fulltext Advanced paternal age effect on trisomy X syndrome

Ahzad Hadi Ahmad, Rabiatul Basria S.M.N. Mydin, Nur Ain Nisrina Roan, Abdul Rahman Azhari, Narazah Mohd Yusoff

Malaysian Journal of Medicine and Health Sciences, 2018;14(201):213-215.
MyJurnal

Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syn- drome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifesta- tions. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.

Matched MeSH terms: Sex Chromosome Disorders of Sex Development
The reproductive systems of Indoplanorbis exustus (Deshayes) (Planorbidae: Pulmonata) and Lymnae rubiginosa (Michelin) (Lymnaeidae: Pulmonata) a description in healthy and trematode habouring snails

Ong PL, Kuan E

Southeast Asian J Trop Med Public Health, 1973 Mar;4(1):46-54.
PMID: 4718128
Matched MeSH terms: Disorders of Sex Development
Early-life citalopram-induced impairments in sexual behavior and the role of androgen receptor

Soga T, Wong DW, Putteeraj M, Song KP, Parhar IS

Neuroscience, 2012 Dec 6;225:172-84.
PMID: 22960312 DOI: 10.1016/j.neuroscience.2012.08.061

Postnatal treatment with selective serotonin reuptake inhibitors (SSRIs) has been found to affect brain development and the regulation of reproduction in rodent models. The normal masculinization process in the brain requires a transient decrease in serotonin (5-HT) levels in the brain during the second postnatal week. Strict regulation of androgen receptor (AR) and gonadotropin-releasing hormone (GnRH) expression is important to control male reproductive activity. Therefore, this study was designed to examine the effects of a potent SSRI (citalopram) on male sexual behavior and expression levels of AR and GnRH in adult male mice receiving either vehicle or citalopram (10mg/kg) daily during postnatal days 8-21. The citalopram-treated male mice showed altered sexual behavior, specifically a significant reduction in the number of intromissions preceding ejaculation compared with the vehicle-treated mice. The citalopram-treated male mice displayed elevated anxiety-like behavior in an open field test and lower locomotor activity in their home cage during the subjective night. Although there was no change in GnRH and AR mRNA levels in the preoptic area (POA), quantified by real-time polymerase chain reaction, immunostained AR cell numbers in the medial POA were decreased in the citalopram-treated male mice. These results suggest that the early-life inhibition of 5-HT transporters alters the regulation of AR expression in the medial POA, likely causing decreased sexual behavior and altered home cage activity in the subjective night.

Matched MeSH terms: Disorders of Sex Development/chemically induced*; Disorders of Sex Development/pathology
Diagnostic pitfalls in the evaluation and management of amenorrhea in adolescents

Azurah AG, Zainuddin AA, Jayasinghe Y

J Reprod Med, 2013 Jul-Aug;58(7-8):324-36.
PMID: 23947083

Amenorrhea is a common menstrual problem seen in adolescents. Amenorrhea has been shown to have a negative impact on adolescents' quality of life. In this paper we discuss the various causes and investigations of amenorrhea in adolescents and address management dilemmas for specific conditions. Specific approaches in dealing with adolescents using the HEADSS (Home, Education, Activity, Drugs, Sexual activity, Suicidal) approach are discussed.

Matched MeSH terms: 46, XX Disorders of Sex Development