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.

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.].

The Impact of Maternal Obesity on NICU and Newborn Nursery Costs.

Background: Research on the effects of maternal obesity on neonates has focused on clinical outcomes. Despite growing interest in obesity as a driver of healthcare expenditure, the financial impact of maternal obesity in the neonatal setting is little understood. Objective: To determine if maternal obesity is associated with higher incurred costs in NICU and full-term nursery. Methods: Data for all live births (1/1/14-12/31/19) at our academic medical center was obtained from the New York State Perinatal Data System for infants >23 weeks gestational age. Financial data was obtained from the hospital's cost-processing application. Infants with missing clinical and/or financial data were excluded. The NIH definition of obesity was used (BMI ≥ 30 kg/m2) to separate infants born to obese and non-obese mothers. Student's t-tests and chi square tests were used to compare maternal data, delivery, and infant outcomes between both groups. A logistic regression model was used to compare infant outcomes using odds ratios while controlling for maternal risk factors (smoking status, pre-pregnancy and gestational diabetes, pre-pregnancy and gestational hypertension). Multivariate regression analysis adjusting for maternal risk factors was also used to compare length-of-stay, total and direct costs in the NICU and full-term nursery between infant groups. Results: Of the 11,610 pregnancies in this retrospective study, obese mothers more frequently had other risk factors (smoke, pre-pregnancy and gestational diabetes, and pre-pregnancy and gestational hypertension). Infants born to obese mothers were more often preterm, had Cesarean delivery, lower APGAR scores, required assisted ventilation in the delivery room, and required NICU admission. Adjusting for maternal risk factors, infants born to obese mothers were less frequently preterm (OR 0.82 [0.74-0.91], p < 0.01) and had NICU stays (OR 0.98 [0.81-0.98], p = 0.02), but more frequently had Cesarean births (OR 1.54 [1.42-1.67], p < 0.01). They also had longer adjusted LOS (2.03 ± 1.51 vs. 1.92 ± 1.45 days, p < 0.01) and higher mean costs per infant in the full-term nursery ($3,638.34 ± $6,316.69 vs. $3,375.04 ± $4,994.18, p = 0.03) but not in NICU. Conclusions: Maternal obesity correlates with other risk factors. Prolonged maternal stay may explain increased LOS and costs in the full-term nursery for infants born to obese mothers, as infants wait to be discharged with mothers.

Narcolepsy genetic marker HLA DQB1*06:02 and excessive daytime sleepiness in Parkinson disease patients treated with dopaminergic agents.

OBJECTIVE: To determine whether narcolepsy Human Leukocyte Antigen (HLA) risk allele DQB1*0602 is associated with excessive daytime sleepiness (EDS) and inappropriate sleep in patients with Parkinson disease (PD). BACKGROUND: EDS is a common and disabling non-motor manifestation of PD, affecting quality of life and driving performance. DQB1*0602 is an HLA risk allele for narcolepsy. It is present in 12-30% of the general population. We hypothesize that DQB1*0602 is associated with an increased risk of EDS and inappropriate sleep in PD patients. METHODS: This was a cross-sectional observational study of 150 PD individuals on dopaminergic agents. Main outcome measures were DQB1*0602 status and the modified Epworth Sleepiness Scale. Individuals with dementia, loss of independence, narcolepsy and untreated sleep apnea were excluded. Confounding variables for EDS were assessed using Parkinson Disease Sleep Scale, Mayo Sleep Questionnaire, Unified PD Rating Scale, Hoehn and Yahr scale. RESULTS: DQB1*06:02 positive PD patients were approximately three times more likely to experience EDS and fall asleep inappropriately during activities that required sustained alertness (e.g. driving, eating, attending work etc.). Exploratory post hoc analysis showed a dopaminergic drug dose- and type- dependent effect on daytime sleepiness in DQB1*06:02 positive individuals. No significant differences were found in confounding variables. CONCLUSION: PD individuals are more likely to experience EDS and fall asleep inappropriately during activities if DQB1*0602 positive. Genetic vulnerability may explain EDS risk in PD.

Ziconotide-Induced Oro-lingual Dyskinesia: 3 Cases.

Background: Ziconotide (ZCN), a nonopioid analgesic, is first-line intrathecal therapy for patients with severe chronic pain refractory to other management options. We describe three cases of ZCN-induced movement disorders. Cases: Case one is a 64-year-old woman who presented with oro-lingual (OL) dyskinesia with dysesthesias and bilateral upper extremity kinetic tremor. Case two is a 43-year-old man with a 20-month history of ZCN treatment who developed OL dyskinesia with dysesthesias, involuntary left hand and neck movements, hallucinations, dysesthesias on his feet, and gait imbalance. Case three is a 70-year-old man with a 4-month history of ZCN use who developed OL dyskinesia with dysesthesias. Conclusions: Intrathecal treatment of pain with ZCN may be complicated by a drug-induced movement disorder where OL dyskinesia is characteristic. The movement disorder is likely to be dose related and reversible with ZCN discontinuation, but a chronic movement disorder is also possible.