Correlation of light and electron microscopic morphometric parameters of glomerular capillaries with serum creatinine and proteinuria.

Waste products in the bloodstream are filtered by the glomerular capillaries in the kidneys and excreted into the urine. When making a differential diagnosis of kidney diseases, structural assessment of glomeruli using histological, ultrastructural, and immunological studies is crucial. This study assessed the microscopic and ultrastructural morphometric parameters of glomerular capillaries and examined their correlation with serum creatinine and proteinuria. A total of 60 kidney biopsy cases received by the transmission electron microscope (TEM) laboratory for diagnosis were included in the study. Toluidine blue stained 300 nm thick sections of TEM tissue blocks were scanned for glomerular morphometry by a whole slide imaging system, and the estimation of Bowman's capsule (BC) area, glomerular capillary lumen diameter (GCLD), glomerular capillary density (GCD), glomerular capillary surface area density (GCSA), and percentage of glomerular capillary lumen space (%GCLS) was performed with QuPath software. TEM images of 70 nm thick sections were used for the evaluation of endothelial fenestration diameter (EFD), glomerular basement membrane (GBM) thickness, and podocyte foot process (PFP) effacement. Proteinuria and serum creatinine showed positive correlations with GBM thickness and PFP effacement. Negative correlations of serum creatinine were observed with EFD, %GCLS, and GCSA. Hence, glomerular filtration is greatly affected by the total area of the glomerular capillary surface and structural changes of GBM. Reduction of glomerulus filtration due to foot process effacement and thickening of GBM results in damage to the filtration barrier leading to the leakage of plasma protein into urine.

Unravelling the Impact of an Additional Sex Chromosome in an Adult Female.

Women with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. We present an asyndromic adult female with features of recurrent pregnancy loss and decreased ovarian reserve detected with mosaic Triple X syndrome (TXS). The patient was initially evaluated by a low-cost peripheral blood (PB) conventional karyotyping using standard cytogenetic protocols. Interphase fluorescence in situ hybridisation was performed to confirm the diagnosis. Chromosomal microarray, which is a more expensive test, substantiated the presence of additional X chromosomes but failed to detect the presence of low level of mosaicism. Our case study emphasised the recommendation of performing a strategy-based cost-effective cytogenetic evaluation of all cases of decreased ovarian reserve or low anti-Müllerian hormone levels in a resource-constrained setting. It also highlighted the need for additional research to understand the natural history of ovarian function in TXS affected women throughout their lifespans.

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.

Turner syndrome (TS) is the most frequently detected chromosomal abnormality in females caused by the partial or complete absence of second X chromosome. Due to varied phenotypical presentation, the diagnosis of TS can create a spectrum of clinical concerns related to morbidity and mortality. At least 10% of Turner females exhibit the presence of Y chromosome or Y-derived sequences. Patients with 45,X/46,XY mosaicism may have a phenotypic variation of the external genitalia and exhibit features ranging from normal male to ambiguous to female genitalia with features of TS. Turner mosaic variants with Y chromosome components have increased risk for gonadoblastoma. Although the risk is not exactly quantifiable, according to the 2016 Cincinnati International TS Meeting Clinical Practice guidelines, bilateral prophylactic gonadectomy is mandatory if Y chromosomal component is identified in mosaic Turner. We describe a rare case of an adult female patient detected as mosaic Turner variant with the presence of Y chromosome and reconfirmed by an aneuploidy FISH probe.

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.

A Systematic Cytogenetic Strategy to Identify Masked Hypodiploidy in Precursor B Acute Lymphoblastic Leukemia in Low Resource Settings.

Hypodiploidy with < 40 chromosomes is associated with poor prognosis in B cell precursor acute lymphoblastic leukemia. In some patients, the hypodiploid clone undergoes endoreduplication, resulting in doubling of the number of chromosomes and masquerades as a high hyperdiploid BCP-ALL. Karyotyping reveals metaphases with 50-79 chromosomes masking the hypodiploid clone. Identifying hypodiploidy in such cases requires awareness of non random alterations of chromosomal copy numbers found in hypodiploid BCP-ALL. We used a systematic strategy to identify masked hypodiploidy integrating targeted fluorescence in situ hybridization (FISH) analysis directed towards identifying monosomies of chromosomes 7, 15 and 17 and flow cytometry-based ploidy analysis (FCPA). Of 445 patients diagnosed as BCP ALL, 2.9% (13/445) were classified as hypodiploid including patients with masked hypodiploidy. Karyotype analysis showed hypodiploidy in 3 patients, near triploidy in 4 patients and normal karyotype in 6 patients. Four patients with near triploid clone on karyotype showed either bimodal peak (2 patients) or single low hypodiploid peak (1 patient) or only near triploid peak (1 patient) on FCPA. All 6 patients with normal karyotype revealed either bimodal peak (4 patients) or hypodiploid peak (2 patients) on FCPA. Targeted FISH analysis unmasked hypodiploid clone showing monosomies of chromosomes 7, 15 and 17 in all ten patients. Our algorithm successfully identified masked hypodiploidy in patients, including those with endoreduplication (4 patients) and normal karyotype (6 patients). Integrating FCPA with targeted FISH analysis provides a practical, sensitive and specific approach to identify masked hypodiploidy in low resource settings.

Characteristics of Empty Follicular Syndrome during In vitro Fertilization Embryo Transfer and its Association with Various Etiologies in Comparatively Young Patients.

BACKGROUND: Nearly 0.6%-7% of patients undergoing in vitro fertilization embryo transfer (IVF ET) will not be able to yield any oocyte despite successful ovarian stimulation and this condition is called as empty follicular syndrome (EFS). EFS is a dreadful situation for clinicians as well as patients, seems to be an unavoidable clinical condition despite a proper ovarian stimulation. MATERIALS AND METHODS: This was a retrospective observational study conducted at a tertiary hospital; 1103 patients who underwent IVF ET between January 2016 and May 2017 were included in the study. STUDY OUTCOME: To estimate the incidence of empty follicle syndrome (EFS) and to study the associated factors. RESULTS: There were 53 (4.8%) cases of EFS out of 1103 cycles of IVF ET; 43 (3.9%) cases were false EFS and 10 (0.9%) cases were genuine EFS. Mean age of EFS group and oocyte retrieved group was 30.17 years and 29.12 years respectively. Recurrence rate of EFS during the next IVF cycle was 36.8%. Decreased ovarian reserve was associated with an increased chance of EFS (54.7%) with a recurrence rate as high as 57%. CONCLUSION: The incidence of EFS is not an uncommon clinical scenario; it depends upon ovarian reserve to a great extent. Young age is not immune for the occurrence of EFS as there is a similar incidence in comparatively younger age group in our study. EFS is seen in all etiological groups of infertility, but only respite is that there is a chance of about 63.2% oocyte retrieval during repeat IVF cycle.

Can self-perceived easy fatigability be a predictor of vitamin D deficiency in young Indian women?

BACKGROUND: Easy fatigability is a common presenting complaint in Indian women who visited primary care hospitals. Many medical conditions like cancer, chronic bronchial asthma, prolonged use of glucocorticosteroid, renal disorder, and hypothyroidism have been associated with low levels of vitamin D. Correction of vitamin D level improves the symptom of fatigue. Whether low vitamin D causes fatigue in otherwise healthy women is the subject of research. AIM: This prospective nonrandomized and therapeutic study observed the prevalence of hypovitaminosis D in women with fatigue and the effect of correction of vitamin D level in fatigue-like symptoms. MATERIAL AND METHODS: One thousand two hundred adult women, who presented in our primary care hospital with complaints of easy fatigue, otherwise no associated medical illness were included. They completed the fatigue assessment questionnaire (FAQ). Patients with hypovitaminosis D received cholecalciferol (60000 IU) therapy for 5 weeks. Scores of pre- and post-treatment FAQs were noted and compared. RESULTS: The prevalence of low vitamin D was noted in 84.8% women who presented with main complaints of fatigue. After the correction of vitamin D level, fatigue symptom scores improved significantly (P < 0.001) in 82.6% of the women in all five-subscale categories of the FAQ. CONCLUSION: We observed a high prevalence of low serum vitamin D level in women who presents with fatigue with no medical illness. A significant improvement was noted in the severity of their fatigue symptoms after the correction of vitamin D levels with cholecalciferol therapy.

Correlation between Serum Progesterone Level on the Day of Ovulation Trigger During In vitro Fertilization and Its Effect on Treatment Outcome.

BACKGROUND: Premature luteinization (PL) is defined as a premature rise in serum progesterone concentration on or before the day of ovulation trigger with human chorionic gonadotropin. The incidence of PL varies between 5% and 30% during in vitro fertilization and embryo transfer (IVF-ET). MATERIALS AND METHODS: The prospective observational study comprising 380 patients undergoing IVF-ET. Blood samples were collected for serum progesterone level estimation on the day of ovulation trigger. Ovum pickup was done 36 h later and serum progesterone levels were correlated with IVF-ET outcome. STUDY OUTCOME: To correlate serum progesterone level on the day of ovulation trigger during IVF and its effect on treatment outcome. RESULTS: Mean serum progesterone level in the positive pregnancy group and negative pregnancy group was 0.892 ± 0.752 ng/ml and 0.91 ± 0.688 ng/ml, respectively (P = 0.961). The overall incidence of PL was 12.8% with 12.7% and 13.6% in the agonist and antagonist protocol respectively (P = 0.9001). PL incidence was 13.5% and 13.4% in positive pregnancy and negative pregnancy group (P = 0.223). CONCLUSION: PL has been associated with 12.8% of the IVF cycles. There was no statistically significant difference observed in the incidence of PL between different IVF stimulation protocols. PL does not seem to affect IVF outcome.

A study on cervical cancer screening in asymptomatic women using Papanicolaou smear in a tertiary care hospital in an urban area of Mumbai, India.

INTRODUCTION: Cervical cancer is the most common cause of death among women in developing countries. Among the Indian women, cervical cancer is the most common genital tract cancer. Papanicolaou (Pap) smear test plays a vital role in the detection of cervical cancer even in its premalignant condition. The aim of this study to evaluate the role of Pap smear in detecting premalignant and malignant lesions as well as nonneoplastic lesions of the cervix and to determine the prevalence of various lesions. MATERIALS AND METHODS: We screened 1100 women in the age group of 21-65 years who attended our medical camp organized by the hospital in outdoor patient department. All women was willing to give consent for screening by Pap smear test were included. RESULTS: Of 1100 cases, majority of the cases were benign comprising negative for intraepithelial neoplasia (NILM) of about 581 (52.8%) cases, 203 (18.4%) inflammatory, atypical squamous cells of undetermined significance 45 (4%), low-grade squamous intraepithelial lesion (LSIL) in 75 (6.8%), and high-grade squamous intraepithelial lesion (HSIL) in 74 (6%) women. Overall sensitivity and specificity for the detection of LSIL were 75.8% and 94.6% and those for the detection of HSIL were 68.9% and 98.6%. CONCLUSIONS: Pap smear test is a very easy, noninvasive, useful, simple, safe, and very economical tool to detect preinvasive cervical epithelial lesions. It is evident and proven that every woman above the age of 30-35 years must be subjected to cervical screening and this must be continued even in the postmenopausal period.