A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome.

Hypoplasia of the lung is an uncommon congenital abnormality of the respiratory system in contrast to pulmonary agenesis. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the congenital absence of the upper two-thirds of the vagina and uterus with normal secondary sexual characteristics, ovary and normal karyotype. We report a 31-year-old female patient who presented in 2022 with cough with expectoration, left-side chest pain and breathlessness for 4 years to tertiary hospital, Puducherry, India. She was evaluated for amenorrhoea and diagnosed as MRKH syndrome and the patient underwent right-side oophorectomy for right ovarian torsion with a tumour. Computed tomography pulmonary angiogram and fiberoptic endoscopy were suggestive of left lung hypoplasia and the patient was advised symptomatic treatment for lung hypoplasia and planned for vaginoplasty for which she refused.

Identification of differentially methylated candidate genes and their biological significance in IUGR neonates by methylation EPIC array.

BACKGROUND: Intrauterine growth restriction (IUGR) is a pregnancy-associated disease manifested by decreased growth rate of fetus than the normal genetic growth potential. It is associated with increased susceptibility to metabolic diseases later in life. Although the mechanisms underlying the origin of metabolic diseases are poorly understood, DNA methylation is a crucial investigation for the identification of epigenetic changes. OBJECTIVES: To assess the degree of change of DNA methylation in IUGR neonates and compare with that of appropriate for gestational age (AGA) neonates and to explore the differentially methylated candidate genes and their biological significance. METHODS: This cohort study was conducted in the Neonatology Department of JIPMER during the period of November 2017 to December 2018. Forty each of IUGR and gestation matched AGA neonates were recruited. Umbilical cord blood samples were collected at birth. DNA was separated from the blood samples; and, using 5-mC DNA ELISA method, the percentage of genomic DNA methylated in these neonates was established. Data were expressed as mean ± standard deviation. Methylation EPIC array was performed to identify the differentially methylated candidate genes. David analysis was used to find out the functional annotation chart by KEGG pathway. RESULTS: Genomic DNA methylation varied significantly between IUGR and AGA neonates (IUGR: 3.12 ± 1.24; AGA: 4.40 ± 2.03; p value: <.01). A global shift toward hypomethylation was seen in IUGR compared with AGA, targeted to regulatory regions of the genome, and specifically promoters. Pathway analysis identified deregulation of pathways involved in metabolic diseases. Altered methylation of PTPRN2 & HLADQB1 genes leads to dysregulation of T-cells and reactive oxygen species (ROS). These changes may lead to complications later among these neonates subjected to IUGR. CONCLUSION: Our findings show significant changes in the methylation pattern of genes among IUGR and AGA babies. Steps for correcting the changes may help in reducing later complications among IUGR babies.

Posterior Reversible Encephalopathy Syndrome: Nitroglycerine a Friend or a Foe?

Posterior reversible encephalopathy syndrome (PRES) refers to a clinico-radiological entity with characteristic features on neuroimaging and rapid onset of nonspecific symptoms including headache, seizure, altered consciousness and visual disturbance. It is a neurotoxic state in response to the acute changes in blood pressure leading to vasogenic oedema. It is often but not always associated with hypertension. However, control blood pressure is one of the mainstays of management in such cases. Nitroglycerine (NTG) is a potent vasodilator and is one of the drugs for treatment of hypertensive emergencies. It is found to worsen the cerebral oedema in PRES which is considered due to failure of cerebral blood pressure autoregulation. Here, we report two such cases where patients with PRES deteriorated with NTG infusion. However, the neurological condition of the patients improved drastically the next day. NTG could have further enhanced vasodilation, thus aggravating developing PRES, after autoregulation was lost because of high blood pressure.

Matrix metalloproteinase-9 is elevated and related to interleukin-17 and psychological stress in male infertility: A cross-sectional study.

BACKGROUND: Matrix metalloproteinase-9 (MMP-9), interleukin-17 (IL-17) and psychological stress are known to play a role in the pathogenesis of male infertility. OBJECTIVE: To assess the association of MMP-9 with IL-17 and psychological stress in infertile men. MATERIALS AND METHODS: In this cross-sectional study, 39 men with infertility diagnosed based on semen analysis and 39 subjects with normal semen analysis were included in the study. MMP-9 and IL-17 were estimated in both groups by ELISA. Perceived stress scale was used to assess psychological stress in controls and cases. RESULTS: In infertile cases, MMP-9 and IL-17 were significantly increased when compared with controls (p = 0.046, p = 0.041 respectively). A significant association of MMP-9 was observed with IL-17 (r = 0.335, p = 0.037) and perceived stress scale (r = 0.329, p = 0.041). CONCLUSION: IL-17 and stress increase MMP- 9 levels in infertile men.

Magnetic Resonance Imaging in Peripartum Encephalopathy: A Pictorial Review.

Acute neurological problems are significant disorders of pre- and postpartum period in women. We analyzed the magnetic resonance imaging (MRI) profile of patients presenting with peripartum encephalopathy over 2 years. Of 51 patients, MRI was abnormal in 40 patients and normal in 11 patients. Posterior reversible encephalopathy (13/40), cerebral venous thrombosis (6/40), and postpartum angiopathy (3/40) are the three most common causes of peripartum encephalopathy as identified in MRI. The other less common but important etiology include HELLP (Hemolysis, Elevated Liver enzymes and Low Platelet) syndrome (2), osmotic demyelination (2), antiphospholipid syndrome (2), tubercular meningitis/cerebritis (3), pituitary hyperplasia with hemorrhage (2), postictal edema (2), cerebellitis (1), transient splenial lesion (1), and changes of old trauma and stroke (one each).

Decreased baroreflex sensitivity is associated with cardiometabolic risks and prehypertension status in early-postmenopausal women.

OBJECTIVE: We studied the link of decreased baroreflex sensitivity (BRS) to cardiometabolic risks and prehypertension status in postmenopausal women during their early menopausal phase. METHODS: Premenopausal women (n = 55) and early-postmenopausal women (n = 50) of age group between 40 and 55 years were recruited for the study, and their anthropometric parameters, complete battery of autonomic function tests (AFT), BRS, hormone levels, and cardiometabolic risk parameters were measured and compared between two groups. Correlation analysis of BRS with various physiological and biochemical parameters in these two groups were performed. Multiple regression analysis of BRS with various other associated factors in postmenopausal subjects and bivariate logistic regression analysis for assessing prediction of prehypertension status by BRS in postmenopausal group were performed. RESULTS: There was a significant difference in AFT and metabolic parameters between premenopausal and postmenopausal women. Sympathovagal imbalance (increased sympathetic and decreased parasympathetic) was prominent in early-postmenopausal women. Decreased BRS, the marker of cardiovascular (CV) risk was found to be significant (P < .001) and correlated with various cardiometabolic parameters in early-postmenopausal subjects. Multiple regression analysis demonstrated that decreased BRS is independently linked to parameters of decreased vagal activity, inflammation, and oxidative stress in early-postmenopausal group. Decreased BRS could predict prehypertension status in early-postmenopausal subjects as confirmed by bivariate logistic regression analysis. CONCLUSION: Sympathovagal imbalance, decreased BRS and considerable metabolic derangements were observed in women in their early phase of menopause. Decreased BRS appears to be associated with the cardiometabolic risks in these women. Prehypertension status in early-postmenopausal subjects could be predicted by decreased BRS.

Are Global DNA methylation and telomere length useful biomarkers for identifying intrauterine growth restricted neonates?

Background: Intrauterine growth restriction (IUGR) is manifested by decreased growth rate of fetus than its normal genetic growth potential. Global DNA methylation is a crucial investigation for identification of epigenetic changes. Epigenetic change regulates Gene transcription, maintenance of genomic stability, and telomere length.Objectives: To investigate whether the global DNA methylation and telomere length are useful for identifying intrauterine growth restriction.Methods: This cohort study was conducted in the Neonatology Department of JIPMER during the period of November 2016 to December 2017. Forty (40) IUGR and forty (40) AGA neonates were recruited. Umbilical cord blood samples were collected at birth. DNA has been separated from the blood samples and using 5-mC DNA ELISA method, the percentage of genomic DNA methylated in these neonates was established. Telomere length (T/S ratio) was measured by using quantitative real time PCR. Data were expressed as a mean ± standard deviation.Results: Genomic DNA methylation varied significantly between IUGR and AGA neonates (IUGR: 3.12 ± 1.24; AGA: 4.40 ± 2.03; p: < .01). There was significant DNA hypo methylation in IUGR neonates. However, telomere length (T/S ratio) was (IUGR: 1.25 ± 0.13; AGA: 1.26 ± 0.22; p: 0.228 (NS)) similar in both groups.Conclusion: Although there is no significant difference in telomere length between IUGR and AGA neonates, global DNA methylation of 3.45 would identify IUGR with a sensitivity and specificity of 69 and 65% respectively.

Assessment of the association of heart rate variability and baroreflex sensitivity with depressive symptoms and stress experienced by women in pregnancy.

BACKGROUND: Pregnancy is a unique physiological state with systemic changes including cardiovascular, autonomic, hemodynamic and psychological. Increase in incidence of stress and depression in antenatal period has been reported. Autonomic changes in pregnancy and its dysfunction in depression are well documented. However, there is lack of evidence associating cardiovascular autonomic dysfunction to stress and depressed mood in pregnant women. METHODS: In this correlation study, we assessed cardiovascular autonomic functions of 172 pregnant women using heart rate variability (HRV) and baroreflex sensitivity (BRS). The Edinburg postnatal depression scale (EPDS) was used to evaluate depressive symptoms and perceived stress scale (PSS) was used to assess stress. The HRV and BRS parameters were correlated with EPDS and PSS. Multiple regression analysis was performed for EPDS and PSS individually to study their association with cardiac autonomic functions(CAF). RESULTS: HRV and BRS were well correlated to EPDS and PSS scores. The depression and stress were found to be significantly associated to autonomic dysfunctions as increased sympathetic and decreased parasympathetic activity. Among various CAF parameters, LF:HF ratio and BRS were found to be significantly associated with depression and stress among these women. CONCLUSION: LF:HF ratio and BRS may be associated with depression during antenatal period. The depression in antenatal period may add on to cardiovascular risk in expecting mothers.

Laparoscopic Ovarian Drilling Reduces Testosterone and Luteinizing Hormone/Follicle-Stimulating Hormone Ratio and Improves Clinical Outcome in Women with Polycystic Ovary Syndrome.

BACKGROUND: Laparoscopic ovarian drilling (LOD) is one of the common modes of treatment for women with polycystic ovary syndrome (PCOS) who are resistant to clomiphene citrate. The data related to the effect of LOD on sex hormones are limited. AIM: The objective of the study was to investigate the effect of LOD on hormonal parameters and clinical outcomes in women with PCOS. SETTINGS AND DESIGN: This study was conducted in a tertiary care hospital. MATERIALS AND METHODS: Fifty PCOS patients who were admitted for LOD were enrolled in the study. Serum testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) levels were estimated in all the patients before and after LOD. STATISTICAL ANALYSIS: Paired t-test was used to assess the differences in hormonal parameters before and after LOD. RESULTS: LOD reduces testosterone (P < 0.001), LH (P < 0.001), and LH/FSH ratio (P < 0.001), increases FSH (P < 0.001) levels, and improves the rate of ovulation (38/50) and clinical pregnancy (21/50) in PCOS. When subgroup analysis was done, LOD significantly reduced testosterone and LH/FSH ratio in ovulatory and conceived groups. Furthermore, the menstrual cycle became regular, and hirsutism and acne were reduced after LOD in women with PCOS. CONCLUSIONS: LOD reduces testosterone and LH/FSH ratio and improves clinical outcome in PCOS.

Tuberculosis screening among pregnant women attending a tertiary care hospital in Puducherry, South India: is it worth the effort?

BACKGROUND: The national tuberculosis (TB) programme in India recommends screening all pregnant women for TB, but this is rarely implemented. We carried out systematic TB screening among women attending the antenatal clinic of a tertiary care hospital in Puducherry, South India, during February to April 2018. OBJECTIVE: To assess the number screened and number (proportion) with presumptive and active TB, and understand potential implementation from the healthcare providers' perspective. METHODS: We conducted a mixed-methods study. The quantitative phase was a cross-sectional study including 4203 pregnant women. Data were captured using a structured proforma. Any of the following symptoms constituted 'presumptive TB': any cough, haemoptysis, fever, weight loss, night sweats, neck swellings, joint pains, neck stiffness and disorientation. Those screening positive were referred for investigations and evaluation by a chest physician. The qualitative phase involved seven one-to-one interviews with healthcare providers. Manual thematic analysis was performed to generate themes. RESULTS: Among 4203 women (two HIV-positive) screened, 77 (1.8%) had presumptive TB. Cough was the predominant symptom (n = 75). Only 12 women could produce a sputum sample, of whom one (0.02%) was diagnosed with active TB by the Xpert MTB/RIF assay. Challenges cited by healthcare providers were lack of awareness among clients and providers, high case load, lack of dedicated staff, perception that TB screening is a low-yield, low-priority activity and losses in the referral process. Suggested solutions were providing dedicated staff and space for screening, educating women to self-report using posters and videos, and creating a one-stop care provision. CONCLUSIONS: The TB yield among pregnant women was very low, calling into question the value of systematic screening in a low-HIV setting. However, the findings may not be generalizable. Evidence is urgently needed from primary and secondary care facilities. The challenges and solutions identified may help in optimizing the screening process.

Laparoscopic ovarian drilling reduces serum homocysteine levels in women with Polycystic Ovary Syndrome.

OBJECTIVE: To investigate the effect of laparoscopic ovarian drilling (LOD) on homocysteine levels and clinical outcomes in women with Polycystic Ovary Syndrome (PCOS). STUDY DESIGN: The study was conducted in JIPMER, Puducherry. Fifty PCOS subjects who were admitted for LOD were enrolled in the study. Serum homocysteine levels were estimated in all the subjects before and after LOD. Paired t-test was used to compare the homocysteine levels before and after LOD. RESULTS: LOD reduces homocysteine levels (p < .001), improves the rate of ovulation (38/50) and clinical pregnancy (21/50) in PCOS. When subgroup analysis was done, LOD significantly reduced homocysteine levels in ovulatory and conceived groups. Between the conceived and non conceived groups, the reduction was more significant (p = 0.001) in conceived group, when compared with non conceived group. CONCLUSIONS: LOD reduces homocysteine levels and improves clinical outcome in PCOS.

Role of p16, CK17, p63, and human papillomavirus in diagnosis of cervical intraepithelial neoplasia and distinction from its mimics.

BACKGROUND: Diagnosis of cervical intraepithelial neoplasia (CIN), the precursor forms of cervical cancer, can be tricky and it has led to discrepancy between pathologists in distinguishing them from its mimics such as atypical immature metaplasia (AIM), immature squamous metaplasia (ISM), reactive atypia (RA), atrophy, and basal cell hyperplasia (BCH). To overcome this problem this study aims at using immunohistochemical (IHC) markers p16, p63, CK17, and human papillomavirus (HPV) to differentiate CIN from its mimics. MATERIALS AND METHODS: This study analyzed 350 cervical samples with histomorphological diagnosis of CIN and its mimics and the utility of IHC markers p16, p63, CK17, and HPV in distinction was analyzed. RESULTS: p16 showed 67.76% sensitivity and 99.4% specificity whereas HPV showed 57.9% sensitivity and 91.6% specificity in detecting CIN. CK17 and p63 did not show any significance in distinguishing CIN from its mimics. After IHC of AIM cases, 66.7% were reclassified as CIN III, 27.8% as ISM with reactive atypia (ISMRA), and 5.5% case as immature condyloma. In total, 3.7% of diagnosis was upgraded to CIN and 0.6% of pre-IHC diagnosis was downgraded from CIN to reactive lesions. CONCLUSION: IHC panel comprising p16, p63, CK17, and HPV are useful adjuncts in distinguishing CIN from its mimics particularly when histomorphology has overlapping morphological features.