Pneumocystis Pneumonia Presenting With Peripheral Predominant Consolidation and Traction Bronchiectasis.

pneumonia (PCP) typically presents as a predominant ground-glass opacity (GGO) in the upper lobes. We report a case of a patient with PCP that mimicked organizing pneumonia or nonspecific interstitial pneumonia, showing peripheral predominant consolidation with traction bronchiectasis and peribronchovascular thickening in the lower lobes on high-resolution computed tomography (HRCT). was detected in bronchoalveolar lavage (BAL), and no other pathogens were isolated.

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Objectives: The causes of intellectual disability (ID) are varied, with as many as 1,400 causative genes. We attempted to identify the causative gene in a patient with long-standing undiagnosed ID.

Methods: Although this was an isolated case with no family history, we searched for the causative gene using trio-based whole-exome sequencing (trio-WES), because severe ID is often caused by genetic variations, and inherited metabolic disorders (IMDs) are assumed to be the cause when regression and epilepsy occur.

Specific consistency score for rational selection of epilepsy resection surgery candidates.

Objective: Degree of indication for epilepsy surgery is determined by taking multiple factors into account. This study aimed to investigate the usefulness of the Specific Consistency Score (SCS), a proposed score for focal epilepsy to rate the indication for epilepsy focal resection.

Methods: This retrospective cohort study included patients considered for resective epilepsy surgery in Kyoto University Hospital from 2011 to 2022.

Pneumocystis jirovecii Pneumonia in a Patient With Localized Mycosis Fungoides Not Receiving Immunosuppressive Treatment.

pneumonia (PCP) is the most common opportunistic infection in patients with human immunodeficiency virus (HIV), but it may develop in patients without HIV, whose immune system is suppressed by anticancer or immunosuppressive agents even when indicating normal counts of CD4+ T cells. Mycosis fungoides (MF) is a primary cutaneous T-cell lymphoma, which is believed not to cause immunosuppressive conditions unless it develops leukosis or metastasis or is treated with anticancer drugs or systemic immunosuppressants. Here, we report a case of PCP in a patient with localized MF not receiving immunosuppressive treatment.

Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.

Background: POLG is one of several nuclear genes associated with mitochondrial DNA maintenance defects and is a group of diseases caused by mitochondrial DNA deficiency that results in impaired adenosine triphosphate production and organ dysfunction. Myocerebrohepatopathy spectrum (MCHS) is the most severe and earliest presentation of POLG mutations, and liver transplantation (LT) for MCHS has never been reported.

Case Presentation: The patient was a 3-month-old boy with acute liver failure and no neurological manifestations (e.

Pneumocystis Pneumonia With Multiple Centrilobular Pulmonary Nodules and Lack of Ground-Glass Attenuation on High-Resolution Computed Tomography.

pneumonia (PCP) typically presents with diffuse ground-glass attenuation (GGA) in both lungs on high-resolution CT (HRCT). While other radiological features, including cysts and air-space consolidation, may be found, the absence of GGA has a high negative predictive value for PCP in patients with AIDS. We report a case of PCP in a male patient who visited our hospital with a subacute, non-productive cough.

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Membrane fusion is mediated by soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins. During neurotransmitter exocytosis, SNARE proteins on a synaptic vesicle and the target membrane form a complex, resulting in neurotransmitter release. N-ethylmaleimide-sensitive factor (NSF), a homohexameric ATPase, disassembles the complex, allowing individual SNARE proteins to be recycled.

Association between the Co-administration of Histamine H Receptor Antagonists and the Effectiveness of Capecitabine in Patients with Colorectal Cancer: Propensity Score Analysis.

The association between the effectiveness of capecitabine and the concomitant administration of gastric acid suppressants remains controversial. We aimed to clarify whether the effectiveness of capecitabine is affected by the co-administration of histamine H receptor antagonists (HRAs) in early-stage colorectal cancer (CRC) patients using real-world data. This multicenter, retrospective, observational study included consecutive patients with stage II-III CRC who received either capecitabine monotherapy or the CapeOX regimen (capecitabine and oxaliplatin) as adjuvant therapy between January 2009 and December 2014 in Japan.

A plunging ranula in a child with holoprosencephaly: a case of unique pathophysiology and difficult airway management.

A ranula is a pseudocyst that originates from the sublingual gland after trauma. Acute cases of ranulas that progress rapidly and cause respiratory distress are rare. Holoprosencephaly is a complex brain malformation caused by incomplete cleavage of the prosencephalon.

Transcriptional coregulator Ess2 controls survival of post-thymic CD4 T cells through the Myc and IL-7 signaling pathways.

Ess2, also known as Dgcr14, is a transcriptional co-regulator of CD4 T cells. Ess2 is located in a chromosomal region, the loss of which has been associated with 22q11.2 deletion syndrome (22q11DS), which causes heart defects, skeletal abnormalities, and immunodeficiency.

Proton pump inhibitors affect capecitabine efficacy in patients with stage II-III colorectal cancer: a multicenter retrospective study.

The association between capecitabine efficacy and proton pump inhibitors (PPIs) is controversial. Here, we determined whether co-administration of PPIs affects the real-world effectiveness of capecitabine. This retrospective observational study included consecutive patients with stage II-III colorectal cancer (CRC) who received adjuvant capecitabine monotherapy or CapeOX (capecitabine and oxaliplatin) between January 2009 and December 2014 at nine participating institutions.

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

Background: Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns.

Re-expansion pulmonary edema following a pneumothorax drainage in a patient with COVID-19.

Background: Re-expansion pulmonary edema is an uncommon complication following drainage of a pneumothorax or pleural effusion. While pneumothorax is noted to complicate COVID-19 patients, no case of COVID-19 developing re-expansion pulmonary edema has been reported.

Case Representation: A man in his early 40 s without a smoking history and underlying pulmonary diseases suddenly complained of left chest pain with dyspnea 1 day after being diagnosed with COVID-19.

Pediatric abdominal arterial intervention using a steerable microcatheter through an introducer with 4-F outer diameter: report of two cases.

In pediatric arteriography, vascular complications are more common than in adults; thus, the use of the smallest catheter to accomplish the objective of the procedure is recommended. We describe two pediatric cases in which abdominal arterial embolization and arteriography were performed with steerable microcatheters without conventional diagnostic catheters. Additionally, we used an introducer with an outer diameter of 4-F in a Mini Access Kit (Merit Medical, South Jordan, UT) as a vascular sheath to reduce sheath size.

Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system.

Background: Primary angiitis of the central nervous system (PACNS) is a newly-emerging disease, and it is known that early diagnosis with treatment is important for the improvement of prognosis.

Case Description: Here, we report the case of a previously healthy 13-year-old girl who presented with right eye abduction failure, attributed to isolated right sixth nerve palsy, as the initial symptom of PACNS. Magnetic resonance angiography (MRA) showed stenosis in the distal portion of the right internal carotid artery, and delay alternating with nutation for tailored excitation (DANTE)-prepared contrast-enhanced magnetic resonance imaging confirmed vasculitis at the same site.