An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia.

ABSTRACT: Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered. Sequencing analysis for TRMA revealed a homozygous c.242dup (p.Tyr81Ter) mutation of the SLC19A2 gene.

Generation of integration free hiPSCs clones, NSi001-A, NSi001-B, and NSi001-C from peripheral blood mononuclear cells of an individual with down syndrome having Robertsonian translocation.

Human-induced pluripotent stem cells (hiPSCs) clones NSi001-A, NSi001-B, and NSi001-C were generated from a female individual of Indian origin having Robertsonian translocation down syndrome (DS) by reprogramming peripheral blood mononuclear cells (PBMCs) using integration-free Sendai viral vectors. The established hiPSCs clones had karyotype similar to the patient sample with Robertsonian translocation [46, XX rob (14;21)], normal ES-like morphology, expression of pluripotency markers, and potential for three germ layer differentiation, i.e., ectoderm, mesoderm, and endoderm.

The Spectrum of Chromosomal Abnormalities and Endocrine Profile of Male Infertility with Nonobstructive Semen Abnormality: A Case-Control Study.

BACKGROUND: Primary infertility is a common occurrence which affects approximately 15% of couples who desire to begin their family. Chromosomal abnormalities are well-established causes of pregnancy loss but may also have a role in explaining the cause of male infertility, especially with nonobstructive semen abnormalities. Hence, awareness regarding safety of artificial reproductive technology in these individuals due to underlying sperm aneuploidy is required. AIMS: The aims of the study are to determine the prevalence of chromosomal abnormalities in primary infertile males with nonobstructive semen abnormalities and correlate with their endocrine profile. STUDY DESIGN: A case-control study, in which 100 males with primary infertility and non-obstructive semen abnormalities were evaluated for chromosomal abnormality and hormonal profile; and were compared with 50 healthy males with normal semen analysis and at least one biological child. MATERIALS AND METHODS: Blood T-lymphocytes were cultured using RPMI-1640 medium for obtaining metaphases and chromosomal analysis. STATISTICAL ANALYSIS: SPSS software and Student's t-test were used. A p < 0.05 was considered statistically significant. RESULTS: Azoospermia (81%) was the most common nonobstructive semen abnormality. Overall prevalence of major chromosomal abnormalities and polymorphic variants was 16% and 7%, respectively. Klinefelter syndrome was the most common sex chromosomal numerical abnormality seen in 6.17% of cases with azoospermia. All healthy control males had 46, XY karyotype. Higher levels of follicle-stimulating hormone and luteinizing hormone and lower levels of testosterone along with testicular volumes were observed in infertile males with abnormal karyotype (p < 0.05). CONCLUSION: Primary infertile males with nonobstructive semen abnormality have high frequency of chromosomal aberrations, which justify the requirement of cytogenetic testing in these patients.

Premature Ovarian Failure Related to Trisomy X: Two Case Reports with an Aberrant 47, XXX Karyotype.

Trisomy X syndrome is a sex chromosome aneuploidy with a variable clinical presentation at different stages of life. We present two asyndromic females with primary infertility and features of premature ovarian failure (POF). The first case was a nonmosaic trisomy X with poor ovarian reserve on pelvic ultrasound and elevated gonadotropins, while the second case was a mosaic trisomy X who had partly preserved ovarian reserve with normal gonadotropins. The 47,XXX syndrome is a relatively uncommon presentation of POF, leading to infertility and can be missed clinically because of its variable presentation. Therefore, we suggest that genetic testing should be a part of early workup in young women presenting with primary infertility and POF for detecting chromosomal aneuploidies, which will require genetic counseling and alter the management.

The Robertsonian translocation of '21/22' in Nonobstructive Azoospermia: A Rare Case Report from India.

Robertsonian translocation is a subtype of balanced translocation involving two acrocentric chromosomes. Individuals who are carrier of this abnormality are at increased risk of infertility or bad obstetric history. This case is reported with the aim to describe a male who presented with nonobstructive azoospermia at a tertiary care center. The individual was phenotypically normal but carrier of a Robertsonian translocation of two acrocentric chromosomes. With this literature, we emphasize that conventional cytogenetic is an essential diagnostic tool for screening genetic factors in infertility.

Cytopathological diagnosis of gallbladder mass and mural thickening based on imaging findings: A prospective study of 51 cases.

BACKGROUND: Image-guided fine-needle aspiration cytology (FNAC) serves as first-line diagnostic modalities for the assessment of mural thickening of the gallbladder (GB). AIM: The main objective of the present study was to correlate the diagnostic accuracy of preoperative image-guided FNAC of the thickened GB wall based on imaging findings to arrive at a final diagnosis in a tertiary care center. MATERIALS AND METHODS: Fifty-seven image-guided fine-needle aspirations (FNAs) were performed from mural thickening of the GB over a period of 4 years and the smears prepared were stained with Leishman and Papanicolaou (Pap) stain. Out of 57 cases, 51 were included in the study for which follow-up histopathology was performed. RESULT: Out of 51 aspirations, 43 (84.3%) were adequate, 5 (9.8%) were inconclusive, and 3 (5.9%) were inadequate. Among the adequate aspirations, the most common was adenocarcinoma-36 (70.5%). The correlation between confirmatory cytological diagnosis and adequacy was significantly high (P = 0.0001). The overall diagnostic accuracy for adequate aspiration was 95.3%. The common diagnostic pitfalls were necrotic areas, aspiration of reactive hepatocytes adjacent to the GB mass, and mucus islands. No procedural complication was observed in any patient. CONCLUSIONS: Image-guided FNAC can be used as a safe, rapid, and successful diagnostic procedure with high sensitivity, specifically for supporting and confirming ultrasonography(USG)/computed tomography (CT) diagnosis of GB mass or mural thickening of the wall.