A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female.

Bartter's syndrome (BS) is a disorder caused by a group of rare mutations that result in defective salt reabsorption in the thick ascending loop of Henle. BS is characterized by salt wasting, hypokalemia, and metabolic alkalosis, among other abnormalities. A MAGE-D2 mutation results in an X-linked form of BS. It results in a transient antenatal presentation that is observed to completely resolve by early infancy, usually occurring in males. We present a case of an adult female with intermittent recurrence of symptoms and metabolic derangements consistent with BS. She also has a family history of polyhydramnios and renal disease. Genetic testing later confirmed a novel MAGE-D2 mutation. Her atypical presentation emphasizes the heterogenous presentation of the different mutations and raises the possibility of persistence of abnormalities beyond infancy in mutations of the MAGE-D2 gene.

Hypocalcemia: A Little Known Cause of Supraventricular Tachyarrhythmia.

Calcium is an essential electrolyte in impulse generation and contraction of cardiac muscle. Hypocalcemia can occur in cases of parathyroid hormone deficiency, primarily due to inadvertent removal of the parathyroid gland during thyroidectomy, however most cases are idiopathic. We present a case of an adult male who developed sustained narrow complex tachycardia due to hypocalcemia in the setting of untreated idiopathic hypoparathyroidism.

Influence of right ventricular structure and function on hospital outcomes in COVID-19 patients.

BACKGROUND: The impact of the right ventricular (RV) structure and function on the in-hospital outcomes in patients with COVID-19 infection has not been rigorously investigated. OBJECTIVES: The main aim of our study was to investigate in-hospital outcomes including mortality, ICU admission, mechanical ventilation, pressor support, associated with RV dilatation, and RV systolic dysfunction in COVID-19 patients without a history of pulmonary hypertension. METHODS: It was a single academic tertiary center, retrospective cohort study of 997 PCR-confirmed COVID-19 patients. One hundred ninty-four of those patients did not have a history of pulmonary hypertension and underwent transthoracic echocardiography at the request of the treating physicians for clinical indications. Clinical endpoints which included mortality, ICU admission, need for mechanical ventilation or pressor support were abstracted from the electronic charts. RESULTS: Patients' mean age was 68+/-16 years old and 42% of the study population were females. COPD was reported in 13% of the study population, whereas asthma was 10%, and CAD was 25%. The mean BMI was 29.8+/-9.5 kg/m2. Overall mortality was 27%, 46% in ICU patients, and 9% in the rest of the cohort. There were no significant differences in co-morbidities between expired patients and the survivors. A total of 19% of patients had evidence of RV dilatation and 17% manifested decreased RV systolic function. RV dilatation or decreased RV systolic function were noted in 24% of the total study population. RV dilatation was significantly more common in expired patients (15% vs 29%, p = 0.026) and was associated with increased mortality in patients treated in the ICU (HR 2.966, 95%CI 1.067-8.243, p = 0.037), who did not need require positive pressure ventilation, IV pressor support or acute hemodialysis. CONCLUSIONS: In hospitalized COVID-19 patients without a history of pulmonary hypertension, RV dilatation is associated with a 2-fold increase in inpatient mortality and a 3-fold increase in ICU mortality.

Correction: A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female.

[This corrects the article DOI: 10.7759/cureus.38681.].

Diagnosis of non-expandable lung using thoracic ultrasound.

Non-expandable lung (NEL) commonly occurs secondary to chronic pleural processes, including pleural effusions, endobronchial obstruction, atelectasis, or chronic pleural inflammatory processes. Patients with NEL frequently undergo unnecessary procedures (e.g., thoracentesis), resulting in pneumothorax and discomfort (usually chest pain). Identifying a chronic process and likely development of NEL may prevent this. Diagnostic modalities currently used in practice include pleural manometry and ultrasonography. This case report demonstrates that blunting of transmitted cardiac impulse on M-Mode of ultrasonography predicts the presence of NEL.

Diagnosing aortic dissection using point of care ultrasound.

Aortic Dissection is a life-threatening condition that requires prompt diagnosis and management. Patients may have atypical presentations and 4-6.4% of aortic dissections are painless. The diagnosis is usually established by either computed tomography angiography, magnetic resonance angiography or transesophageal echocardiography. Point of care of ultrasonography (POCUS) is a rapid method of diagnosis that is underutilized in current clinical practice. This case report highlights the important role of POCUS to obtain a timely diagnosis.

Rare organ manifestations of sarcoidosis.

PURPOSE: We retrospectively analyzed the frequency and clinical characteristics of organs rarely involved with sarcoidosis in a cohort of 1158 sarcoidosis patients cared for over nearly 11 years in a university outpatient sarcoidosis clinic. METHODS: Data were analyzed from an institution-approved sarcoidosis clinical database containing demographic and clinical characteristics of sarcoidosis outpatients cared for between May 2011 and March 2021 at a university medical center sarcoidosis clinic. The diagnosis of sarcoidosis was established by standard international criteria. Rare organ involvement was defined as an organ not individually listed in the Word Association of Sarcoidosis and Other Granulomatous Disorders Sarcoidosis Organ Assessment Instrument. RESULTS: Twenty-six of the 1158 patients (2.2%) had 27 instances of rare organ involvement. The most common rare organ involved was the GI tract, followed by the testicle and then the female reproductive tract. Only 1 of the 26 patients with rare sarcoidosis organ involvement required therapy for that organ involvement. In comparison with sarcoidosis patients without rare organ involvement, patients with rare organ involvement were more likely to be black, have more total organs involved with sarcoidosis, and more likely require anti-sarcoidosis therapy at some point during the course of their disease. There were no differences between these groups in terms of sex, age at diagnosis, and most recent percent predicted forced vital capacity. CONCLUSIONS: Rare sarcoidosis organ involvement occurred in 2.2 percent of this cohort. Although rare organ involvement rarely required treatment, it was associated with more extensive disease that was more likely to require therapy.

A case of severe cancer-related pulmonary hypertension; An unexpected resolution.

Pulmonary hypertension (PH) in cancer patients can be caused by several mechanisms. It can be a direct cancer effect through pulmonary tumor thrombotic microangiopathy, pulmonary tumor emboli, extrinsic compression, intravascular tumors, or a secondary consequence of therapy, including chemotherapy agents, radiation, and stem cell transplantation. We present the first case of complete resolution of cancer-related PH.

Incidence, Risk Factors, and Outcomes of Rhabdomyolysis in Hospitalized Patients With COVID-19 Infection.

INTRODUCTION: There is a paucity of studies examining the prevalence and clinical characteristics of rhabdomyolysis in hospitalized patients with COVID-19 infection. The purpose of this study is to examine the incidence, clinical characteristics, and outcome of hospitalized patients with COVID-19 infection who develop rhabdomyolysis. METHODOLOGY: This is a single-center retrospective analysis of all hospitalized patients with COVID-19 admitted between March 8, 2020, and January 11, 2021. All patients with creatinine kinase (CK) levels available during the hospital admission were included. Rhabdomyolysis was defined as an elevation in CK level higher than five times the upper limit of normal (i.e., 1125 U/L). We compared clinical characteristics and outcomes of patients who developed rhabdomyolysis with patients who did not develop rhabdomyolysis. RESULTS: The incidence of rhabdomyolysis in hospitalized patients with COVID-19 infection was 9.2%. There was no significant difference noted in comorbidities and clinical characteristics between the two groups. Moreover, there was no significant difference noted in the presence of severe COVID-19 infection (72.7% vs 54.6%, p = 0.1), mortality (27.3% vs 23.9%, p = 0.72), acute kidney injury (59.1% vs 42.7%, p = 0.14), or need for intensive care unit (ICU) care (72.7% vs 51.4%, p = 0.051). However, a higher percentage of patients in the rhabdomyolysis group required physical rehabilitation after discharge (40.9% vs 19.3%, p = 0.02). CONCLUSION: The overall incidence of rhabdomyolysis in hospitalized patients with COVID-19 infection was high (9.2%). The presence of rhabdomyolysis was not associated with the increased severity of the disease. Patients with rhabdomyolysis more frequently required physical rehabilitation compared to those without rhabdomyolysis.