Unexpected Hurdle in the Race: Hypophosphatasia Unmasked by the Female Athlete Triad.

Hypophosphatasia should be considered for any patient who presents with multiple metatarsal stress fractures and a low alkaline phosphatase.

Trends in Maternal Mortality and Severe Maternal Morbidity During Delivery-Related Hospitalizations in the United States, 2008 to 2021.

Importance: Maternal mortality and severe maternal morbidity (SMM) are important focus areas in public health. Further understanding trends, health disparities, and risk factors for these adverse outcomes is vital to public health decision-making. Objective: To describe trends and risk factors for delivery-related maternal deaths and SMM in the United States. Design, Setting, and Participants: This is a retrospective cross-sectional study using data from a large, geographically diverse, all-payer hospital administrative database. Hospital discharges from January 2008 to December 2021 with any Medicare Severity Diagnosis Related Group, International Classification of Diseases, Ninth Revision, Clinical Modification, or International Classification of Diseases, Tenth Revision, Clinical Modification delivery diagnosis or procedure code were included. Data analysis took place from February 2021 to March 2023. Exposures: Year, quarter (Q), age, race and ethnicity, delivery method. Main Outcomes and Measures: Maternal mortality, SMM during delivery-related hospitalization. Results: Overall, 11 628 438 unique hospital discharges were analyzed, with a mean (SD) age of 28 (6) years. There were 437 579 (3.8%) Asian, 92 547 (0.8%) American Indian, 1 640 355 (14.1%) Black, 1 762 392 (15.2%) Hispanic, 83 189 (0.7%) Pacific Islander, and 6 194 139 (53.3%) White patients. Regression-adjusted maternal mortality per 100 000 discharges declined from 10.6 deaths in Q1 2008 to 4.6 deaths in Q4 2021. Mortality was significantly higher among patients with advanced maternal age (eg, age 35-44 years vs 25-34 years: adjusted odds ratio [aOR], 1.49; 95% CI, 1.22-1.84). Other significant risk factors for mortality included cesarean delivery, comorbid conditions, complications, and COVID-19 diagnosis (eg, cesarean delivery: aOR, 2.28; 95% CI, 1.87-2.79). The prevalence of any SMM increased from 146.8 per 10 000 discharges in Q1 of 2008 to 179.8 per 10 000 discharges in Q4 of 2021. SMM risk factors included age 24 years or younger or age 35 years or older, belonging to a racial or ethnic minority group, cesarean delivery, Medicaid insurance, and having 1 or more comorbidities (eg, age 10-19 years: aOR, 1.39; 95% CI, 1.36-1.42). Conclusions and Relevance: This cross-sectional study found that delivery-related mortality in US hospitals decreased for all racial and ethnic groups, age groups, and modes of delivery during 2008 to 2021, likely demonstrating the impact of national strategies focused on improving maternal quality of care provided during delivery-related hospitalizations. SMM prevalence increased for all patients, with higher rates for racial and ethnic minority patients of any age. Advanced maternal age, racial or ethnic minority group status, cesarean delivery, and comorbidities were associated with higher odds of mortality and SMM.

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.

Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability. Fragile X associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disorder seen more often in older men. Fragile X associated primary ovarian insufficiency (FXPOI) is a chronic disorder characterized by oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. There may be significant morbidity due to: (1) depression and anxiety related to the loss of reproductive hormones and infertility; (2) reduced bone mineral density; and (3) increased risk of cardiovascular disease related to estrogen deficiency. Here we report the case of a young woman who never established regular menses and yet experienced a 5-year diagnostic odyssey before establishing a diagnosis of FXPOI despite a known family history of fragile X syndrome and early menopause. Also, despite having clearly documented FXPOI the woman conceived spontaneously and delivered two healthy children. We review the pathophysiology and management of FXPOI. As a rare disease, the diagnosis of FXPOI presents special challenges. Connecting patients and community health providers with investigators who have the requisite knowledge and expertise about the FMR1 gene and FXPOI would facilitate both patient care and research. There is a need for an international natural history study on FXPOI. The effort should be coordinated by a global virtual center, which takes full advantage of mobile device communication systems.

Osteoporosis-associated fracture and diabetes.

Osteoporosis and diabetes mellitus are chronic diseases with significant associated morbidity and mortality. Recent evidence suggests that both type 1 and type 2 diabetes are associated with an increased fracture risk. Fracture as a complication of diabetes must be considered when evaluating and treating patients with diabetes.

Thromboembolic disease and cancer: possible new treatments.

Hypoxia-induced endothelin (ET) and vascular endothelial growth or permeability factor (VEGF) play an important role in tumor biology by promoting angiogenesis. Angiogenesis alters hemostasis and promotes thromboembolic disease (TED). Therapeutic angiogenesis directed against ET and VEGF may reduce the incidence of TED in cancer patients.

Dyeing uric acid crystals with methylene blue.

The growth of anhydrous uric acid (UA) and uric acid dihydrate (UAD) crystals from supersaturated aqueous solutions containing methylene blue, a cationic organic dye, has been investigated. Low concentrations of dye molecules were found to be included in both types of crystal matrixes during the growth process. Incorporation of dye into UA crystals occurs with high specificity, affecting primarily [001] and [201] growth sectors, while UAD crystals grown from solutions of similar dye concentration show inclusion but little specificity. The orientation of the UA-trapped species was determined from polarization data obtained from visible light microspectrometry. To achieve charge neutrality, a second anionic species must also be included with the methylene blue into UA and UAD crystal matrices. Under high pH conditions, crystallization of 1:1 stoichiometric mixtures of methylene blue and urate yields methylene blue hexahydrate (MBU.6(H2O). The crystal structure of MBU.6(H2O) reveals continuous pi-pi stacks of planes of dye cations and urate anions mediated by water molecules. This structure provides an optimal geometry for methylene blue-urate pairs and additional support for the incorporation of these dimers in uric acid single-crystal matrices. The strikingly different inclusion patterns in UA and UAD demonstrate that subtle changes in the crystal surfaces and/or growth dynamics can greatly affect recognition events.