Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.

Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).

Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous variant.

We report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.

Multimodal imaging assessment for feasibility of endovascular reconstruction in cases of inferior vena cava atresia.

Inferior vena cava atresia is a rare condition with highly variable anatomy due to the complexity of caval embryology. When endovascular venovenous reconstruction is considered for severe persistent sequelae, multimodality imaging with CT and invasive venography is used to determine the appropriateness of intervention and for procedural planning.

Unique clinical and prognostic behavior of patients diagnosed with combined exophytic and inverted papilloma histologic subtype.

Objectives: To evaluate the clinical and prognostic behaviors of sinonasal papillomas.

Methods: Patients diagnosed with sinonasal papilloma were reviewed between 2001 and 2016 at a tertiary rhinology practice. Using pathology-specific electronic medical record software, patients diagnosed with sinonasal papilloma were identified.

Three cases highlighting possible discrepancies in the interpretation of transgender DXA scores.

For diagnosis of osteoporosis, a -score of ≤-2.5 is recommended for all transgender and gender-diverse patients aged 50 years or older, regardless of hormonal status. This case series presents 3 transgender individuals younger than 50 years undergoing gender-affirming hormone therapy (GAHT) who had DXA scores suggestive of osteoporosis.

Pulmonary vascular dysfunction without pulmonary hypertension: A distinct phenotype in idiopathic pulmonary fibrosis.

Pulmonary vascular dysfunction in the absence of pulmonary hypertension (PH) has been observed in patients with idiopathic pulmonary fibrosis (IPF). We describe the prevalence and etiology of elevated pulmonary vascular resistance (PVR) without PH among patients with IPF. Hemodynamic, echocardiographic, and functional respiratory imaging (FRI) data was compared between patients with IPF without PH with normal (<3 wood units) and elevated PVR (≥3 wood units).

Simultaneous diagnosis of papillary thyroid cancer and systemic mastocytosis.

Key Clinical Message: When managing patients with differentiated thyroid cancers (DTC) and lytic bone lesions, physicians should consider etiologies other than DTC bony metastases when there is no biochemical and functional radiographic evidence of extensive DTC burden.

Abstract: Systemic mastocytosis (SM) is a clonal expansion of mast cells associated with an increased risk of solid malignancies. There is no known association between systemic mastocytosis and thyroid cancer.

Intraoperative transesophageal three-dimensional ultrasound of the spinal cord.

Three-dimensional transesophageal ultrasound of the spinal cord is a new and promising imaging modality that could easily be used clinically for real-time evaluation of the spinal cord anatomy or for intraoperative guidance.

Layperson Perception of Reflux-Related Symptoms.

Objective: To assess for differences of intended meaning in the description of reflux-related symptoms among otolaryngology patients and clinicians.

Study Design: Cross-sectional survey-based study.

Setting: Five tertiary, academic otolaryngology practices.

Eponyms in Otology: A Historical Narrative of Commonly Used Surgical Instruments.

Numerous eponymous instruments are regularly used in the otology surgical suite. This manuscript uses a tympanoplasty to highlight 10 frequently used instruments and the remarkable surgeons behind their creation. Many of these names will be familiar, but we hope our readers will gain an appreciation of these landmark figures that have transformed the practice of otology.

Persistent level 1 hypoglycemia due to hypothyroidism and underlying Neurofibromatosis type 1.

Key Clinical Message: Hypoglycemia in non-diabetic patients is rare and may be due to various etiologies. It is important to recognize hypoglycemia early and appropriately manage hypoglycemia in patients with neurofibromatosis 1 and hypothyroidism.

Abstract: Non-diabetic hypoglycemia is not common and can be seen in certain conditions like Neurofibromatosis type 1 (NF1).

Technology-enhanced simulation in emergency medicine: Updated systematic review and meta-analysis 1991-2021.

Background: Over the past decade, the use of technology-enhanced simulation in emergency medicine (EM) education has grown, yet we still lack a clear understanding of its effectiveness. This systematic review aims to identify and synthesize studies evaluating the comparative effectiveness of technology-enhanced simulation in EM.

Methods: We searched MEDLINE, EMBASE, PsycINFO, CINAHL, ERIC, Web of Science, and Scopus to identify EM simulation research that compares technology-enhanced simulation with other instructional modalities.

Dental loss, stress fractures, and musculoskeletal pain in a 48-year-old woman.

We report a 48-year-old female patient with various stress fractures of extremities, musculoskeletal pain, and tooth loss. Hypophosphatasia was diagnosed based on clinical and laboratory findings and ALPL genetic results. This case highlights the importance of early diagnosis of hypophosphatasia in adults and appropriate treatment to prevent further complications.

A soldier's return to duty after minimally invasive correction of complex congenital cardiovascular disease.

We report a case of incidental detection of severe aortic coarctation, severe secundum atrial septal defect, and bicuspid aortic valve in an active-duty military service member. A single complex minimally invasive procedure successfully corrected his coarctation and atrial septal defect allowing this patient to continue military service.

Ultrasound-guided Percutaneous Cryoneurolysis to Treat Chronic Postamputation Phantom Limb Pain: A Multicenter Randomized Controlled Trial.

Background: Postamputation phantom pain is notoriously persistent with few validated treatments. Cryoneurolysis involves the application of low temperatures to reversibly ablate peripheral nerves. The authors tested the hypothesis that a single cryoneurolysis treatment would decrease phantom pain 4 months later.

The Draf III procedure: A review of indications and techniques.

The Draf Ⅲ procedure involves the creation of a common frontal sinus cavity. The most common indication for the Draf Ⅲ procedure is chronic rhinosinusitis of the frontal sinuses despite the failure of more conservative interventions such as bilateral Draf Ⅱa procedures. Primary Draf Ⅲ may be indicated in patients with a high risk of failures such as those with severe polyposis and those with a frontal sinus opening less than 4 mm on computed tomography imaging.

Ectopic variceal bleeding from chronic superior mesenteric vein thrombosis after hemorrhagic pancreatitis.

Varices are a common cause of gastrointestinal (GI) bleed. When ectopic, there is often a delay in diagnosis as it is difficult to localize these varices. Ectopic small bowel varices usually arise from portal hypertension, which commonly develops in the setting of cirrhosis.

Improvement of depression in a patient with hypothyroidism and deiodinase polymorphism with LT3 Therapy.

We report a 54-year-old man with treatment-resistant depression (TRD) and hypothyroidism who responded to LT3/LT4 combination, rather than LT4 alone. He was able to discontinue all antidepressant medications eventually. Interestingly, the patient has a DIO2 polymorphism.

Paraganglioma masquerading as a primary liver lesion: A rare entity discovered during surgery.

A 54-year-old woman with controlled hypertension presented with abdominal pain and weight loss. Imaging revealed a 6.6 cm liver lesion.

Calcitonin-secreting pancreatic neuroendocrine tumor in a patient with elevated thyroid fine-needle aspirate calcitonin washout: A case report and review of the literature.

We report the unique case of a patient with previously proven non-functional PanNET and Graves' disease with thyroid nodules. The patient had elevated intranodular calcitonin, but no MTC or c-cell hyperplasia on thyroidectomy. They were found to have calcitonin secreting PanNET.

The cell phone vibration test: A telemedicine substitute for the tuning fork test.

Objective: An at home-test for differentiating between conductive and sensorineural hearing loss remains elusive. Our goal was to validate the novel cell-phone vibration test (CPVT) against the Weber tuning fork test (WTFT) and to assess if the CPVT can be self-administered by patients reliably.

Study Design: Cross-sectional.