-
2 weeks ago | 
cureus.com
Background and objective Preeclampsia (PE) is a lethal hypertensive disorder that significantly contributes to maternal as well as fetal morbidity besides mortality, especially in low-resource settings like India. Thus, it is essential to diagnose and manage early to prevent poor maternal and fetal outcomes. PE causes cerebrovascular endothelial dysfunction and impairs cerebral autoregulation due to systemic hypertension. So, monitoring of cerebrovascular alteration is crucial for preventing severe neurological outcomes. In this study, we have used maternal ophthalmic artery Doppler (OAD) as a key tool for monitoring hemodynamic parameters and severity of the disease in PE and normotensive pregnant women. Methodology A prospective observational case-control study took place in a medical facility that provided tertiary care from April 2023 to March 2025, including 170 pregnant women (85 PE cases and 85 normotensive controls). OAD metrics, such as pulsatility index (PI), resistivity index (RI), peak systolic velocity, and end-diastolic velocity, were measured using high-resolution ultrasound with a 7-10MHz transducer. Data were analyzed using IBM SPSS Statistics for Windows, Version 20 (Released 2011; IBM Corp., Armonk, New York, United States), and cutoff values for determining PE severity were determined using receiver operating characteristic (ROC) curve analysis. Results PE patients demonstrated significantly higher RI and PI values compared to controls (p<0.001). ROC analysis identified RI >0.72 and a strong predictor of PE severity (sensitivity 82.3%, specificity 79.4%). Increased OAD indices correlated with adverse maternal and fetal consequences, including intrauterine growth restriction as well as preterm birth. Conclusion This prospective observational case-control study demonstrates the maternal OAD velocimetry as a valuable tool in evaluating and predicting PE in pregnancy. Increased resistance in the right ophthalmic artery and lower pulsatility suggest cerebrovascular dysfunction and impaired autoregulation in PE. As it serves as a promising surrogate marker for cerebrovascular dysfunction, its integration into routine obstetric evaluation may aid in early detection and risk stratification.
-
2 weeks ago | 
cureus.com
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by the progressive development of renal cysts, ultimately leading to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Patients are typically diagnosed in their 20s or 30s, and the majority have a parent with a known history of the condition. The most common gene mutations associated with ADPKD are PKD1 and PKD2, although other mutations have also been identified. Kidney enlargement rates can vary and serve as a marker for ADPKD progression and the eventual decline in kidney function. The Mayo Imaging Classification (MIC) tool assesses the risk of progression by incorporating height-adjusted total kidney volume (htTKV) and the patient's age. Tolvaptan is recommended for patients at high risk of progression, although it has not been studied in individuals over the age of 65. This case report focuses on the diagnosis and management of ADPKD in a 66-year-old male with no known family history of the condition. Genetic testing revealed an IFT140 gene mutation, typically associated with a less severe phenotype. However, the patient was classified as 1C according to the MIC, indicating a high risk of disease progression. This case underscores the challenges of managing severe disease in older patients, given the limited research available for this age group.
-
2 weeks ago | 
cureus.com
The patient is a 73-year-old woman. She had a brain hemorrhage at 53 years of age and underwent craniotomy and hematoma removal. At 55 years of age, she was treated for multiple renal cysts. An infection has spread to the existing renal cyst. The patient’s renal function gradually deteriorated, and she underwent hemodialysis at 56 years of age. At 58 years of age, an internal shunt was created using an autologous blood vessel in the left elbow fossa. Thereafter, she was hospitalized six times because of a cyst infection and received antibiotic treatment. At 72 years of age, she experienced a brain hemorrhage and received conservative treatment at our hospital. Presently, she presented with swelling in the left forearm. Upon further examination, bleeding was found in the left forearm muscles. Hemostatic surgery was performed under general anesthesia. Here, we report a rare case of forearm hemorrhage in a patient with comorbid cystic kidney disease.
-
3 weeks ago | 
cureus.com
This case report presents a 33-year-old male with polycystic kidney disease (PKD) who presented with superior vena cava syndrome due to an anterior mediastinal mass. Imaging and pathology confirmed a Hodgkin’s lymphoma of nodular sclerosis subtype of the mediastinum. Despite chronic kidney disease, prioritization to treat the Hodgkin’s lymphoma was taken with careful monitoring of renal function. Renal function declined throughout chemotherapy, necessitating modification to the chemotherapy regimen, but not requiring dialysis. Three years following remission from lymphoma, renal function continued to decline, prompting renal transplant and bilateral nephrectomy. This case highlights considerations in treatment for oncological disease with pre-existing decreased kidney function.
-
3 weeks ago | 
cureus.com
This case report presents a 33-year-old male with polycystic kidney disease (PKD) who presented with superior vena cava syndrome due to an anterior mediastinal mass. Imaging and pathology confirmed a Hodgkin’s lymphoma of nodular sclerosis subtype of the mediastinum. Despite chronic kidney disease, prioritization to treat the Hodgkin’s lymphoma was taken with careful monitoring of renal function. Renal function declined throughout chemotherapy, necessitating modification to the chemotherapy regimen, but not requiring dialysis. Three years following remission from lymphoma, renal function continued to decline, prompting renal transplant and bilateral nephrectomy. This case highlights considerations in treatment for oncological disease with pre-existing decreased kidney function.
-
3 weeks ago | 
cureus.com
Background Obstructive sleep apnea syndrome (OSAS) is a condition characterized by repeated episodes of partial or complete blockage of the upper airway during sleep, leading to disrupted breathing and poor sleep quality. In individuals with OSAS, blood oxygen levels can drop significantly due to repeated interruptions in breathing during sleep. The retina is highly sensitive to oxygen levels, and prolonged hypoxemia can contribute to retinal damage and worsen macular edema. Objective The study aims to correlate the effect of OSAS on the severity of macular edema as evaluated through optical coherence tomography (OCT) in patients with diabetic retinopathy and retinal vein occlusion. Additionally, the study seeks to assess treatment outcomes following anti-vascular endothelial growth factor (VEGF) therapy. It will also evaluate the relationship between subfoveal choroidal thickness (SFCT) and OSAS using enhanced depth imaging OCT. Methods Patients with macular edema secondary to diabetic retinopathy or retinal vein occlusion were identified through a complete ophthalmological examination and referred to pulmonology for level 1 polysomnography to diagnose concomitant OSAS. All patients received anti-VEGF ranibizumab for macular edema, with monthly follow-ups until the macular edema resolved (central macular thickness (CMT) less than 250 µm) or until three intravitreal ranibizumab injections were administered. All data were collected and analyzed. Results The study included 12 participants, with a mean age of 51.33 ± 14.16 years, a mean height of 163.41 ± 7.21 cm, and a mean weight of 65.08 ± 13.31 kg. Among the participants, 25% had mild OSAS, 50% had moderate OSAS, and 25% had severe OSAS. All participants showed improvement in visual acuity when comparing the first and third visits, with a p-value < 0.05 for the mild and moderate OSAS groups. The decline in CMT post-intravitreal ranibizumab was significant across all levels of OSAS, with a p-value < 0.05. The mean SFCT was reduced in all participants relative to normal age-matched controls; however, these results were not statistically significant. A weak positive correlation was observed between the apnea-hypopnea index and CMT, as well as between the oxygen desaturation index and CMT. Conclusions The study findings indicate that while there was no significant association between the severity of OSAS and CMT, there was a statistically significant improvement in visual acuity following anti-VEGF injections in patients with mild to moderate OSAS. In cases of severe OSAS, the improvement in vision was minimal and statistically insignificant. Additionally, the mean SFCT was significantly reduced in the study population compared to normal age-matched controls, but no significant differences were found when comparing the different severities of OSAS individually.
-
1 month ago | 
cureus.com
Scalp masses are common clinical findings with a broad differential diagnosis, often benign in nature. However, in rare cases, they can be the initial presentation of an underlying intracranial pathology. We report the case of a patient presenting with a painless scalp mass, which led to the incidental discovery of a giant intracranial arteriovenous malformation (AVM). Imaging studies revealed an extensive high-flow vascular lesion with multiple arterial feeders and venous drainage, consistent with a giant AVM. Given the size and complexity of the malformation, a multidisciplinary approach was required for evaluation and management. Giant intracranial AVMs are rare and often diagnosed following neurological symptoms such as seizures, headaches, or hemorrhage. In this case, the scalp mass served as an external marker of a deep-seated vascular anomaly, highlighting the importance of thorough clinical and imaging investigations in atypical presentations. This case emphasizes the need for vigilance when evaluating scalp masses, as they may be the first indication of significant intracranial pathology. Early recognition and appropriate imaging can lead to timely diagnosis and intervention, potentially preventing life-threatening complications.
-
1 month ago | 
cureus.com | Manisha Pandey |Anita Rani |Prashant Bajpai |Jyoti Chopra
SpecialtyPlease chooseI'm not a medical professional. Allergy and ImmunologyAnatomyAnesthesiologyBiostatisticsCardiac/Thoracic/Vascular SurgeryCardiologyCritical CareDentistryDermatologyDiabetes and EndocrinologyEmergency MedicineEpidemiology and Public HealthFamily MedicineForensic MedicineGastroenterologyGeneral PracticeGeneticsGeriatricsHealth PolicyHematologyHIV/AIDSHospital-based MedicineI'm not a medical professional.
-
1 month ago | 
cureus.com
Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder, characterized by the formation of multiple cysts in the kidneys, leading to progressive kidney enlargement and, eventually, renal failure. It is most frequently associated with PKD1 or PKD2 mutations, although rare variants, such as the GANAB gene, are also associated, but they present as a milder renal phenotype. ADPKD patients often present with renal manifestations, such as hypertension, abdominal pain, hematuria, or urinary tract infections, along with extrarenal manifestations, such as liver cysts, heart valve disease, and cerebral aneurysms. ADPKD is usually diagnosed in the fourth or fifth decade of life. This case report discusses the clinical presentation, diagnostic approach, and management of an 18-year-old female patient with no known first-degree family history of ADPKD, who presented with hypertension and bilateral renal cysts on ultrasound. The diagnosis was confirmed by imaging studies and genetic testing. The GANAB gene mutation found in this patient is typically associated with mild kidney disease; however, according to the Mayo Clinic Imaging Classification (MIC) for ADPKD, our patient falls under Classification 1E, which is predictive of rapid progression to end-stage renal disease (ESRD). It highlights the challenges in treating young patients with ADPKD, given the limited studies available for managing this progressive disease in the young population. This case questions the assumption that GANAB-associated ADPKD progresses in a mild manner. Clinicians should prioritize vigilant monitoring and a multidisciplinary approach for young patients with high-risk imaging characteristics, regardless of their genetic findings.
-
1 month ago | 
cureus.com
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary kidney disorders, characterized by progressive cyst development. Neurofibromatosis type 1 (NF1) is another autosomal dominant disorder, characterized by café-au-lait spots, neurofibromas, and multisystem involvement. We report the case of an 18-year-old male with ADPKD and NF1, referred due to progressively worsening renal dysfunction. His initial estimated glomerular filtration rate (eGFR) was 71.9 mL/min/1.73m², with MRI showing bilateral cystic renal enlargement (total kidney volume: 758 mL). One year later, his eGFR declined to 56.7 mL/min/1.73m², and kidney volume increased by 10.4% over one year. Tolvaptan was initiated, and he remains under follow-up. Mutations in the PKD1/PKD2, which are responsible for ADPKD, affect intracellular signaling, including the mammalian target of the rapamycin (mTOR) pathway, leading to cyst formation and progression, while NF1 mutations overactivate the Ras proteins. His disease progression was more severe than that of his father with ADPKD alone, suggesting NF1 may have accelerated cyst enlargement. The co-occurrence of ADPKD and NF1 is extremely rare, with only a few cases reported in the past.