Alport Syndrome With a Rare Collagen Type IV Alpha-4 (COL4A4) Gene Mutation: A Case Report.

Alport syndrome (AS) is a rare, progressive hereditary kidney disease characterized by sensorineural hearing loss and visual abnormalities. It is caused by a mutation in the collagen type IV alpha-4 (COL4A4) gene, which produces type IV collagen, and often manifests in individuals with hematuria, proteinuria, edema, and hypertension. Here, we present a case of AS in a 15-year-old boy with a COL4A4 gene mutation, with renal and extrarenal findings. The patient presented with subnephrotic proteinuria and microscopic hematuria, autoimmune hypothyroidism, and keratoconus. Light microscopy examination of renal biopsy revealed three globally sclerosed renal cortical parenchyma areas with periglomerular fibrosis, and electron microscopy showed variable thickness of glomerular basement membrane with festooned appearance, as well as splitting of lamina densa giving basket weave and criss-cross pattern.

Ovarian Ectopic Pregnancy in a Female With Mitral Valve Repair and Mitral Stenosis: A Case Report on a Rare Type of Ectopic Pregnancy.

Ovarian ectopic pregnancy (OEP) occurs in cases where the fertilized egg is implanted outside the uterus in either of the ovaries. Assisted reproductive technologies and intrauterine device failure are high-risk factors associated with ovarian ectopic pregnancy. Pregnancies categorized under OEP have a higher risk of serious morbidities to maternal health. Clinical presentations of OEP are usually noted as abdominal pain and vaginal bleeding. Transvaginal ultrasound is considered the preferred primary modality for the diagnosis of OEC. It can be life threatening, especially in patients with mitral valve replacement (MVR) or heart diseases like rheumatic heart disease, majorly due to anticoagulant therapy. Pregnancy in MVR-mitral stenosis patients has been reported to have an increased risk of obstetric hemorrhage, miscarriage, and associated complications during delivery. Management of OEP depends on the patient's physical and clinical condition, with a primary focus on preserving the affected ovary function. This is a case of a 35-year-old pregnant female with a history of MVR presented with per vaginal bleeding and ruptured ectopic pregnancy. Radio imaging showed the product of conception attached to the right ovarian cyst. The patient was counseled for exploratory laparotomy and subsequently had right ovarian cystectomy alone with bilateral tubal ligation by modified Pomeroy's method.

Torsion in Uterus: An Obstetrical and Gynaecological Emergency.

Uterine torsion is defined as torsion of the uterus along its longitudinal axis greater than 45 degrees. It is observed in all age groups of the reproductive period, in all parity groups, and at all stages of pregnancy. Torsion from 60 degrees to 720 degrees has been described. It is not possible to clarify why it occurs, but numerous abnormalities have appeared with uterine torsion. It is a rare complication that can result in placental abruption and intrauterine foetal death. Pregnancy, giant fibroids, and ovarian cysts are among the most common causes. Vague clinical attributes make diagnosis challenging pre-operatively and can be missed on routine ultrasound. Being a rare life-threatening condition, it necessitates a high level of concern for diagnosis and prompt intervention to optimise results. This review will help the healthcare worker to understand the various presentation of uterine torsion and their management by appropriately and timely diagnosing it.

Diagnosis, Management, and Associated Comorbidities of Polycystic Ovary Syndrome: A Narrative Review.

Polycystic ovary syndrome (PCOS) is the most widespread and diverse endocrine health issue affecting many adolescent-aged women globally. It is the most frequent illness in reproductive-aged women. According to the Rotterdam criteria, two out of three elements: oligo-anovulation, hyperandrogenism, and polycystic ovaries (defined as having at least one ovary with an ovarian volume > 10 mL and/or 12 or more follicles measuring 2 to 9 mm in diameter) are present in PCOS. Conducted studies show epigenetics, environmental toxins, stress, and food as external factors as well as inflammation, oxidative stress, hyperandrogenism, insulin resistance, and obesity as internal factors related to PCOS. Although a portion of the mechanism associated with the occurrence of PCOS has been identified, there is still much to learn about the exact etiology and pathophysiology. The main debate covers the best ways to diagnose and treat this disease in adolescents. Early detection is crucial because of the disease's long-term effects on metabolic and reproductive health. Before beginning treatment for this group of young women, a firm diagnosis may not be made. Various criteria are used to diagnose PCOS patients. A person with PCOS has a chance of developing several comorbidities and health effects. PCOS patients are at risk of cardiac diseases, metabolic syndromes, resistance to insulin, infertility, and many more. There are numerous medications available for PCOS therapy that need a methodical approach. However, changing one's lifestyle should come first. There is proof in the support of the usage of several medications for PCOS, including mucolytic agents, Hydroxymethylglutaryl-CoA (HMG-CoA) reductase inhibitors, gliptins (oral diabetic medication), glucose-like peptide-1 receptor analogues, glitazones, and sodium-glucose cotransporter protein-2 (SGLT2) inhibitors. A comprehensive, systematic, schematic therapy approach is crucial for the treatment of PCOS.

Revolutionizing Early-Stage Cervical Cancer Treatment: A Comprehensive Review of Radical Trachelectomy as a Minimally Invasive Approach.

This comprehensive review explores the transformative potential of radical trachelectomy as a minimally invasive approach to early-stage cervical cancer treatment. Cervical cancer, a significant global health concern, necessitates innovative strategies for effective intervention, particularly in its early stages. The review begins by providing a background on cervical cancer, emphasizing the pressing need for early-stage treatment options. The focal point is the meticulous examination of radical trachelectomy, a surgical technique that addresses the oncological aspects of treatment and preserves fertility. The conclusion encapsulates vital findings, highlighting this approach's dual benefits and challenges. Furthermore, the implications for clinical practice underscore the paradigm shift that radical trachelectomy brings, urging healthcare professionals to consider its integration into personalized treatment plans. The review concludes with a compelling call to action for further research, emphasizing the importance of refining surgical techniques and fostering interdisciplinary collaboration to ensure the seamless implementation of radical trachelectomy. Overall, this review sets the stage for a transformative shift in the approach to early-stage cervical cancer, presenting radical trachelectomy as a promising frontier in the quest for effective and patient-centered interventions.

A Case of Crigler-Najjar Syndrome Type II During Pregnancy and Its Management.

Crigler-Najjar syndrome (CNS) is a genetic syndrome that results in increased levels of unconjugated bilirubin due to less or completely nonfunctional enzyme, uridine diphosphoglucoronyltransferase (UDPGT) in hepatocytes. When bilirubin metabolism is compromised, hyperbilirubinemia is caused, which results in increased levels of unconjugated and conjugated bilirubin in the bloodstream. CNS is an autosomal recessive disorder, usually noticeable as people get older. This disorder is divided into two types: CNS type I and CNS type II, which are caused by homozygous or compound heterozygous mutations in the UDP glucuronosyltransferase family 1 member A1 (UGT1A1) gene. The disorder affects all races and genders equally, with a prevalence of one per million births. CNS type I is more severe and has almost undetectable UDPGT expression activity, and affected individuals die before one year of age. Consanguineous marriages are a major risk factor as CNS is inherited in an autosomal recessive manner. Being rare, maternal CNS type II is yet to be completely understood in terms of its impact on the mother, her pregnancy, and the infant. We aim to present a case of a pregnant female with CNS type II and its clinical course. She was monitored closely during her pregnancy. The treatment protocol was followed as per previously reported cases and was managed on low, non-teratogenic doses of phenobarbitone. A successful outcome with the birth of a healthy infant having normal neurological development till six months follow-up was observed.

Navigating Perinatal Challenges: A Comprehensive Review of Hepatitis B Viral Infection and Pregnancy Outcomes.

Hepatitis B viral infection poses a significant challenge during pregnancy, as the risk of vertical transmission carries serious consequences for both maternal and neonatal well-being. This comprehensive review delves into the intricacies surrounding hepatitis B infection during the perinatal period, shedding light on its impact on pregnancy outcomes and stressing the necessity of addressing it within the broader framework of perinatal care. By scrutinizing current evidence, diagnostic methodologies, management techniques, and preventive measures, this review emphasizes the urgent need for enhanced screening protocols, timely interventions, and augmented public health initiatives. Notably, key findings underscore the elevated likelihood of chronic hepatitis B virus (HBV) infection in infants and its enduring implications for the health of both mothers and newborns. The imperative call to action advocates for a multifaceted approach, engaging healthcare professionals, policymakers, and public health agencies to optimize strategies for management and prevention, thereby striving for improved outcomes for pregnant women and their infants affected by hepatitis B viral infection.

Unraveling the Predictive Power: Placenta Growth Factor and Pregnancy-Associated Plasma Protein A in Pre-eclampsia.

This review provides a comprehensive exploration of the roles of placenta growth factor (PlGF) and pregnancy-associated plasma protein A (PAPP-A) in the context of pre-eclampsia, a pregnancy-related hypertensive disorder with significant implications for maternal and fetal health. The background elucidates the clinical significance of pre-eclampsia, highlighting its prevalence and impact. The review delves into the biological importance of PlGF and PAPP-A, emphasizing their critical roles in normal placental development and their dysregulation in pre-eclampsia. Notably, altered levels of these biomarkers emerge as potential diagnostic indicators, offering insights into the pathophysiology of the disorder. The exploration of pathophysiological mechanisms, including angiogenic imbalance and placental dysfunction, provides a nuanced understanding of pre-eclampsia's molecular landscape. The therapeutic implications of targeting PlGF and PAPP-A open avenues for future research, aiming at effective intervention strategies. The conclusion summarizes key findings, outlines implications for future research, and underscores the crucial role of PlGF and PAPP-A in understanding and managing pre-eclampsia, with the ultimate goal of improving outcomes for both mothers and infants.

An Unforeseen Complication: Intestinal Prolapse After Total Abdominal Hysterectomy.

After total abdominal hysterectomy (TAH), intestinal prolapse is uncommon. We report an instance of a 48-year-old woman who had TAH and then intestinal prolapse. Two weeks after the operation, symptoms started to show up, and the vaginal vault developed a bulging bulge. The problem was satisfactorily treated with an urgent laparotomy. The significance of being vigilant for unusual complications following TAH is shown by this example.

Application of Deep Brain Stimulation in Refractory Post-Traumatic Stress Disorder.

Post-traumatic stress disorder (PTSD) is a mental disorder that produces crippling anxiety and occurs in response to an extreme, traumatic stressor. Compared to the prevalence of PTSD in the general population, the prevalence of PTSD in at-risk populations (e.g., army veterans, those affected by environmental calamities, and others) can reach up to threefold. The conventional treatment of PTSD involves using SSRIs (serotonin reuptake inhibitors) and other anti-depressants along with psychotherapy such as debriefing and CBT (cognitive behavioral therapy). Due to increasing resistance to conventional treatment, more novel treatment options, such as stellate ganglion block shots and neuromodulation, are being explored. These neuromodulation techniques include transcranial magnetic stimulation (TMS), transcranial direct current stimulation (TDS), and deep brain stimulation (DBS). The rationale behind employing these techniques in refractory PTSD is the altered neurocircuitry seen in PTSD patients, which can be visualized on imaging. Studies involving the use of DBS for PTSD primarily target specific areas in the brain: the amygdala, the prefrontal cortex, the hippocampus, and the hypothalamus. This article aims to provide a brief overview of the various neuromodulation techniques currently employed in the management of treatment-resistant PTSD and an in-depth review of the available literature on animal models in which DBS for PTSD has been researched. We also shed light on the human clinical trials conducted for the same.

Contemporary Review of Masses in the Canal of Nuck.

Canal of Nuck masses is a rare occurrence that can cause swelling in the abdominal-inguinal region of females for various reasons. This condition arises due to an abnormal persistence of the processus vaginalis opening. Although Canal of Nuck pathology is not widely known among general surgeons or gynecologists due to its rarity, it has been associated with significant morbidity and requires further research. In this comprehensive review, we aim to summarize the embryology and anatomy of the Canal of Nuck, followed by a description of the various types of masses that can occur in this region. We discuss the clinical presentation and diagnostic workup of Canal of Nuck masses, including imaging modalities and differential diagnoses. Next, we review the surgical management of these masses, including open and laparoscopic approaches. Finally, we discuss the potential complications and long-term outcomes associated with Canal of Nuck pathology. This review aims to compile the presently accessible literature on anomalies occurring in the Canal of Nuck in females, with a particular focus on describing their pathological nature, diagnosis, and management. In summary, this review provides an up-to-date understanding of the pathology, diagnosis, and management of Canal of Nuck masses and aims to raise awareness of this under-recognized surgical challenge among healthcare providers.

Alternative Birthing Positions Compared to the Conventional Position in the Second Stage of Labor: A Review.

The position in which the woman delivers has a lot of impact on the ease of delivery. Women's satisfaction with their birthing experience and the care they receive is significantly impacted by the fact that giving birth is frequently a challenging experience. Birthing positions refer to various postures which can be assumed at the time of delivery by a pregnant woman. Currently, the majority of women give birth either while lying flat on their backs or in a semi-sitting position. Upright positions, which include standing, sitting, or squatting along with side-lying and hands-and-knees, are less common birth positions. Doctors, nurses, and midwives are among the most important healthcare professionals, having a significant influence in deciding which position the woman will give birth in and on the physiological and psychological effects of the experience of a woman in labor. There isn't much research to back up the best position for mothers during the second stage of labor. This review article aims to review and compare the advantages and risks of common birthing positions and know about the knowledge of alternative birthing positions among pregnant women.

Clinico-Metabolic Profile in Lean Versus Obese Polycystic Ovarian Syndrome Women.

Background Polycystic ovarian syndrome (PCOS), which affects women of reproductive age, is the most prevalent endocrine disorder. Signs of excessive androgen, irregular menses, prolonged anovulation, and infertility are characteristics of the clinical phenotype. Women with PCOS are more likely to have diabetes, obesity, dyslipidemia, hypertension, anxiety, and depression. PCOS affects women's health starting before conception and continuing through their post-menopausal years. Methods Ninety-six study subjects were recruited from women visiting the gynaecology clinic according to the Rotterdam criteria for PCOS. Study subjects were then divided into lean and obese groups according to their body mass index (BMI). Demographic data, and obstetrical and gynaecological history were obtained including marital status, menstrual cycle regularity, recent abnormal weight gain (in the preceding six months), and subfertility. To identify any clinical signs of hyperandrogenism such as acne, acanthosis nigricans, or hirsutism, a general and systemic examination was conducted. Data were analyzed after the clinico-metabolic profile was assessed, compared, and contrasted between the two groups. Results The findings showed a significant correlation between obese women with PCOS and the clinical profile of PCOS i.e. menstrual irregularities, acne vulgaris, acanthosis nigricans and hirsutism; the waist-hip ratio was higher in both groups. Higher levels of fasting insulin, fasting glucose: insulin ratio, postprandial sugars, homeostasis model assessment of insulin resistance (HOMA-IR) index, total testosterone, free testosterone, and luteinizing hormone/follicle-stimulating hormone (LH: FSH) ratio were seen in obese women with PCOS, whereas the levels of fasting glucose, serum triglycerides, serum high-density lipoprotein cholesterol (HDL) were higher in all the study subjects irrespective of BMI. Conclusion The study showed that women with PCOS have a deranged metabolic profile like abnormal blood sugar, insulin resistance (IR), and hyperandrogenemia with clinical derangements like irregular menses, subfertility, and recent weight gain more frequently with higher BMI.

Intrathecal Adjuvant Midazolam Versus Fentanyl With Hyperbaric Bupivacaine for Post-operative Analgesia in Women Undergoing Total Abdominal Hysterectomy.

Background The administration of adequate analgesia post-operatively has been associated with fewer cardiopulmonary complications, lower morbidity and mortality, lower healthcare costs, and higher patient satisfaction. One of the most effective ways to raise the standard of healthcare would be standardization of multimodal analgesia with enhanced recovery after surgery. Adjuncts to spinal anesthetists can achieve a better post-operative pain relief with less doses of rescue analgesia. Methods This was a prospective, randomized trial conducted on 60 women undergoing abdominal hysterectomy under spinal anesthesia. We evaluated the impact of adding 0.5 mL (2.5 mg) of intrathecal midazolam versus 25 mcg of intrathecal fentanyl (0.5 mL) with 2.5 mL injection of 0.5% bupivacaine (hyperbaric) (12.5 mg). The outcomes were prolongation of analgesia in the post-operative period, onset and duration of sensory and motor blockade, stable hemodynamics, and any adverse reactions to the study drugs. Results The two groups, group M (midazolam + hyperbaric bupivacaine) and group F (fentanyl + hyperbaric bupivacaine), had similar distribution for age, weight, and type and duration of surgical procedure. Both groups had stable vital parameters and experienced a similar onset of sensory and motor blockade. Intraoperative modified Ramsay sedation score was better in group M in comparison to group F. However, mean of elapsed time of two-segment regression of sensory block, from T12 to L1 level, and mean time to regression, from Bromage score 3 to 2, were longer in group F. Group F also had a better visual analogue scale (VAS) score in the post-operative period than group M, and group F experienced a longer average post-operative analgesic duration (lasting for 367.73 minutes) as compared to group M (lasting for 254.9 minutes), having a difference that was of statistical significance (p < 0.001). No substantial adverse reactions were seen in either group. Conclusion The duration of post-operative analgesia is significantly prolonged when 25 mcg of adjuvant intrathecal fentanyl is used with 0.5% bupivacaine (hyperbaric) as compared to intrathecal midazolam 0.5 mL (2.5 mg) in women undergoing abdominal hysterectomy under spinal anesthesia. Both fentanyl and midazolam have minimal adverse reactions and are safe to use as adjuvants to 0.5% of bupivacaine (hyperbaric) in surgeries conducted in the lower abdomen.

A Case Report of Secondary Postpartum Hemorrhage in a Pregnant Woman With a Mechanical Mitral Valve: Challenges of Anticoagulation.

A pregnant woman with rheumatic heart disease always runs the risk of developing both thromboembolic and hemorrhagic symptoms, necessitating careful monitoring of her anticoagulation treatments both throughout pregnancy and after delivery. Postpartum haemorrhage, a hemorrhagic manifestation, can be challenging to control and presents a significant challenge when it comes to beginning anticoagulation after delivery. Thus, pregnancy in these patients is an extremely risky endeavour. Given that these women take anticoagulants, managing these women with artificial heart valves throughout pregnancy can be difficult. The diminished clotting ability in these women may be the cause of postpartum haemorrhage, and a multidisciplinary approach is necessary for a successful treatment. To manage this potentially fatal illness, a well-equipped institution with proper support systems is essential. We present a 23-year-old primigravida who was 39 weeks and three days pregnant and had a repaired aortic valve as well as a prosthetic mitral valve. She was taking warfarin to prevent clotting when she was pregnant.

Immature Teratoma: A Case Report of a Monster Tumor in the Pediatric Age Group.

Immature teratoma is a rare type of germ cell tumor containing embryonic tissues that may be malignant. It usually occurs in young women and affects the ovaries. Teratomas exhibit benign clinical behavior, but they can return as teratomas or with malignant components, and in a small subset of individuals, the prognosis may be deadly. We will discuss a case of a 9-year-old female child who presented with pain and a huge lump in the lower abdomen that was suggestive of an ovarian dermoid cyst or a germ cell tumor on computed tomography (CT) abdomen pelvis and underwent exploratory laparotomy and debulking surgery. Histopathology results indicated that she had a grade 3 immature teratoma. Postoperatively, the patient received 3 cycles of bleomycin, etoposide, and cisplatin (BEP) as adjuvant chemotherapy with a good response. She is currently under regular follow-up and has no evidence of recurrence or metastasis. This case illustrates the importance of early diagnosis and treatment of immature teratoma, which can be cured with surgery and chemotherapy. It also highlights the challenges of managing such a large tumor in a pediatric patient.

Radiotherapy Versus Chemotherapy in Locally Advanced Cervical Cancer.

Eighty percent of women who have cervical cancer present at such an alarmingly advanced stage leading to high morbidity and mortality. Due to a lack of public awareness and inadequate infrastructure for screening and early identification in resource-poor countries like India, this tardy presentation is anticipated to continue in the future. Standard management for locally advanced squamous cell cervical cancer is radiotherapy. To increase responses and survival, neoadjuvant chemotherapy (NACT) was introduced to the arsenal. Recent studies from India have shown encouraging results for women getting concomitant chemo-radiation for locally advanced cervical cancer. However, toxicities are still a major problem. The approximated five-year actuarial survival rate with NACT is roughly 45% (95% confidence interval, 37-53%) with a median survival rate of 56 months. Compared to radiotherapy alone, patients receiving chemo-radiation are said to have a considerably better survival rate. Vomiting and nausea are the adverse effects that occur most frequently. Renal dysfunction and myelosuppression can also happen. However, there is evidence of effective tumor control. We will talk about a 55-year-old, para 5 elderly lady who had white discharge coming from her vagina and a cervical mass that bled when touched. She underwent NACT for six weekly cycles, followed by definitive chemo-radiation, and she responded favorably to this management strategy, indicating that the addition of chemotherapy is yet another cause for optimism in the management of cancer of the cervix.

Placental Abruption Complicated by the Couvelaire Uterus: A High-Risk Obstetric Case at 30 Weeks Gestation.

Placental abruption, a rare but life-threatening obstetric emergency, presents substantial risks to maternal and fetal well-being. This case report documents the clinical journey of a 35-year-old woman with multiple risk factors who presented at 30 weeks gestation with symptoms suggestive of placental abruption, including colicky lower abdominal pain and vaginal bleeding. Notably, her late initiation of prenatal care and a history of pregnancy-induced hypertension added complexity to the clinical picture. The case revealed a Couvelaire uterus, an uncommon and challenging complication of placental abruption, further emphasizing the need for early recognition and swift intervention. A multidisciplinary approach played a pivotal role in managing this high-risk obstetric case. Imaging and laboratory tests facilitated diagnosis and assessment, guiding surgical intervention and post-operative care. Despite the severity of the condition, the patient experienced a positive outcome for herself and her fetus, highlighting the critical importance of timely and comprehensive medical care. This case report contributes to medical knowledge by shedding light on the rare Couvelaire uterus. It underscores the significance of early diagnosis, coordinated healthcare teams, and patient education in mitigating risks associated with placental abruption. Ultimately, it reinforces the vital role of healthcare providers in safeguarding the lives of expectant mothers and their infants in obstetric emergencies.

Efficacy of Dienogest in Adolescent Endometriosis: A Narrative Review.

Teenage endometriosis is seen as a chronic condition that can worsen if untreated. Treatment objectives include relief of symptoms, prevention of disease development, and preservation of future fertility. In many regions, dienogest (DNG), an oral progestin, has emerged as a key treatment in suppressing endometriosis. The usage of DNG for endometriosis in adolescents was researched in papers published between 2015 and 2022 using PubMed and Google Scholar. A thorough search of all identified studies' reference lists and previously published literature reviews was carried out. The study's nature and geographic scope were not restricted. After reviewing these publications, the authors decided on which ones were the most pertinent in light of their personal experiences. The final study consisted of 14 studies that satisfied inclusion requirements. The trials showed that taking DNG 2 mg daily efficiently lowers endometriotic lesions, eases painful endometriosis symptoms, and improves quality-of-life indicators. In most of these investigations, DNG was shown to be safe and tolerated, with predictable and moderate side effects, good patient compliance rates, and low withdrawal rates. Although endometrioma did not enlarge while receiving treatment, significant regression was not typical. Overall, the studies found that DNG is safe and effective in reducing symptoms of endometriosis in adolescents.

Pre-Conceptional and Antenatal Care for Improved Newborn and Child Survival in India: A Review.

There is sufficient scientific evidence that quality pre-conceptional care and antenatal care can improve newborn survival. This review was conducted to understand the concept of pre-conceptional care and its implementation status in India. The review documents the specific interventions that have been proven to effectively improve pregnancy outcome when provided as pre-conception care. Healthcare providers, particularly obstetricians/gynecologists and general physicians, should prioritize pre-conception care as an essential component of healthcare for women. However, the lack of continuum of care and program linkages are some of the key barriers in ensuring pre-conceptional and ante-natal care in India. Culturally and linguistically appropriate care should be provided to ensure that all women can access and understand the information and services needed to optimize their reproductive health and improve pregnancy outcomes. Prioritizing pre-conception and prenatal care, healthcare providers can improve maternal and fetal outcomes, reduce healthcare costs, and promote lifelong health for women and their families. The primary healthcare reforms being done in India can be and should be used to strengthen pre-conceptional and ante-natal care services and quality.