Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 158
Filter
2.
Clin Pediatr Endocrinol ; 33(3): 151-156, 2024.
Article in English | MEDLINE | ID: mdl-38993714

ABSTRACT

Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid hormone (PTH) resistance. Only few patients present with involuntary movements. We report the case of a 7-yr-old girl with PHP and involuntary movements triggered by running. Initially, she was suspected of having paroxysmal kinesigenic dyskinesia and was treated with carbamazepine (CBZ). Involuntary movements were reduced. However, 2 months post-treatment, she experienced convulsions during a fever. Blood tests and brain computed tomography revealed hypocalcemia, hyperphosphatemia, elevated intact PTH, and calcifications in the frontal cortex and basal ganglia. The patient showed no features of Albright's hereditary osteodystrophy. The involuntary movements disappeared after the discontinuation of CBZ and initiation of calcium and active vitamin D preparations. Methylation-specific multiplex ligation-dependent probe amplification for the GNAS region and microsatellite analysis of chromosome 20 led to the diagnosis of PHP1B caused by epimutation. In 15 reported cases, with or without intracranial calcification, PHP-associated involuntary movements disappeared or became less severe with treatment for hypocalcemia; in eight of 11 cases, they were triggered by exercise or movement. PHP-associated hypocalcemia can trigger exercise-induced involuntary movements owing to lowered serum ionized calcium levels. In such patients, early blood tests are vital for the differential diagnosis of PHP.

3.
Clin Immunol ; 266: 110324, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39032847

ABSTRACT

PURPOSE: Histiocytic necrotizing lymphadenitis (HNL) is an inflammatory disease of unknown etiology clinically characterized by painful lymphadenopathy. This study aimed to investigate the role of interferon (IFN)-α in the pathogenesis of HNL and the clinical significance of serum IFN-α levels for the diagnosis and monitoring of HNL disease activity. METHODS: This study enrolled 47 patients with HNL and 43 patients with other inflammatory diseases that require HNL differentiation including malignant lymphoma (ML), bacterial lymphadenitis, and Kawasaki disease. Expression of IFN-stimulated genes (ISGs) and MX1 in the lymph nodes was measured by real-time quantitative reverse transcription polymerase chain reaction and immunofluorescence staining, respectively. Enzyme-linked immunosorbent assay was used to quantify serum cytokine levels. The results were compared with the clinical features and disease course of HNL. RESULTS: Patients with HNL had a significantly elevated ISG expression in the lymph nodes compared with those with ML. MX1 and CD123, a specific marker of plasmacytoid dendritic cells (pDCs), were colocalized. In patients with HNL, serum IFN-α levels were significantly elevated and positively correlated with disease activity. The serum IFN-α level cutoff value for differentiating HNL from other diseases was 11.5 pg/mL. CONCLUSION: IFN-α overproduction from pDCs may play a critical role in HNL pathogenesis. The serum IFN-α level may be a valuable biomarker for the diagnosis and monitoring of disease activity in patients with HNL.


Subject(s)
Dendritic Cells , Histiocytic Necrotizing Lymphadenitis , Interferon-alpha , Lymph Nodes , Humans , Histiocytic Necrotizing Lymphadenitis/diagnosis , Histiocytic Necrotizing Lymphadenitis/blood , Histiocytic Necrotizing Lymphadenitis/immunology , Male , Interferon-alpha/blood , Female , Child , Adolescent , Adult , Dendritic Cells/immunology , Dendritic Cells/metabolism , Child, Preschool , Lymph Nodes/pathology , Myxovirus Resistance Proteins/genetics , Myxovirus Resistance Proteins/metabolism , Myxovirus Resistance Proteins/blood , Young Adult , Middle Aged , Lymphoma/diagnosis , Lymphoma/immunology , Lymphoma/blood , Mucocutaneous Lymph Node Syndrome/diagnosis , Mucocutaneous Lymph Node Syndrome/immunology , Mucocutaneous Lymph Node Syndrome/blood , Biomarkers/blood , Cytokines/blood , Cytokines/metabolism
5.
JGH Open ; 8(7): e70012, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39050556

ABSTRACT

Background and aim: Ulcerative colitis (UC) is characterized by repeated relapse and remission. Because no fundamental therapeutic strategy has been established, the treatment goal is generally to maintain the remission phase for a long period after rapid remission induction. Granulocyte and monocyte adsorption (GMA) for UC is reportedly quite safe because it does not affect immunosuppression. Moreover, it is useful in combination with other remission induction therapy. The aim of this study was to evaluate the difference in efficacy by the timing of the addition of GMA with corticosteroids, calcineurin inhibitors, and anti-cytokine therapy for active UC. Methods: The study included 59 patients. Patients who started GMA of 5-11 days were in the early GMA combination group. Patients who started GMA 12 days or more were in the late GMA combination group. The primary endpoint was difference in the effect of additional GMA according to the timing of the intervention. The secondary endpoint was difference in the time to remission induction between the two groups. Results: Of the 32 early GMA group patients, 24 achieved remission induction. Of the 27 late group patients, 18 achieved remission induction. No significant difference in induction rates was found (P = 0.481). The early group had shorter mean time to remission induction (P < 0.001). Conclusions: In conclusion, results suggest that early addition of GMA might lead to earlier remission in patients who have had an inadequate response to remission induction therapy with corticosteroids, calcineurin inhibitors, and anti-cytokine therapy.

6.
Tohoku J Exp Med ; 263(3): 211-215, 2024 Sep 18.
Article in English | MEDLINE | ID: mdl-38811211

ABSTRACT

In this study, we report two cases of siblings diagnosed with primary ciliary dyskinesia (PCD) sharing an identical genotype yet exhibiting distinct phenotypes. A 13-year-old girl with acute pneumonia was admitted to our hospital. Chest and sinus radiography revealed situs inversus and bilateral maxillary sinusitis. Chest computed tomography revealed bronchiectasis. Her 6-year-old brother with acute bronchitis was admitted and was diagnosed with bronchial asthma due to recurrent wheezing. Unlike his sister, he did not have situs inversus. Both patients had a chronic wet cough and were diagnosed with bronchial asthma by their family doctor. The mean PCD rule (PICADAR) scores were 9 and 7, respectively. Genetic analysis confirmed the presence of the same homozygous mutation (c.546C > A,pTyr182Ter) in DNAI2. To date, there have been four reports of the same pathogenic variants but different PCD phenotypes. Pathological variants of DNAI2 cause the loss of the outer dynein arm, the absence of which results in a lack of primary ciliary movement involved in the left-right axis formation during the embryonic period. A lack of functional cilia results in randomized visceral asymmetry; hence, the same pathogenic variant may exhibit different phenotypes. PCD is often overlooked and is sometimes managed as bronchial asthma, as in these siblings. In our case, the PICADAR score was useful in predicting the clinical diagnosis of PCD.


Subject(s)
Genotype , Kartagener Syndrome , Phenotype , Siblings , Humans , Female , Male , Adolescent , Child , Kartagener Syndrome/genetics , Kartagener Syndrome/diagnosis , Tomography, X-Ray Computed , Mutation/genetics
8.
Cureus ; 16(2): e53397, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38435224

ABSTRACT

A 14-year-old boy presented with fever and abdominal pain and was diagnosed with acute pancreatitis based on computed tomography findings. The patient had neither diarrhea nor bloody stool but was diagnosed with microcytic anemia. Endoscopic examination revealed a cobblestone pattern and longitudinal ulcer scars in the jejunum. However, no abnormal findings were observed in the ileum or colon. Endoscopic ultrasound-guided fine-needle aspiration was performed from pancreatic body-tail. Pathological examination revealed no evidence of autoimmune pancreatitis (AIP). It was unclear from pathological examination whether idiopathic pancreatitis had self-limitedly improved or whether it was AIP localized to the pancreatic head. The patient was diagnosed with asymptomatic small-bowel Crohn's disease (CD), which may have been two unrelated events of acute pancreatitis. Acute pancreatitis may precede a diagnosis of inflammatory bowel disease. CD with only jejunal involvement (Montreal classification L4) is extremely rare, and we were able to diagnose it early.

12.
Thorac Cancer ; 15(3): 209-214, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38083973

ABSTRACT

BACKGROUND: Histopathology by pathologists is essential in the diagnosis of non-small cell lung cancer (NSCLC). However, auxiliary diagnostic procedures for malignant tumor have continued to evolve. Despite the poor prognosis of patients with NSCLC, the application of the latest procedures and technologies to the field of lung cancer has lagged. Mass spectrometry was used to detect trace amounts of peptides in human tissue with high accuracy. The aim of this study was to establish a method for diagnostic mass spectrometry to identify lymph node metastasis by detecting cytokeratin (CK)19, a useful biomarker in lung cancer. METHODS: We collected 81 lymph nodes with positive expression of CK19 in patients who underwent radical surgical resection in the Department of Thoracic Surgery at Iwate Medical University between May 2020 and December 2022. An X500R instrument was used for sample analysis. A positive result for lymph node metastasis as the detection at least two product ions (FGPGVAFR and ILGATIENSR) from CK19 was defined. RESULTS: Our study indicated a high diagnostic efficiency for mass spectrometry, with 87.5% sensitivity and 91.2% specificity. The mutual concordance of mass spectrometry methods and histopathological diagnosis was 90.1%. CONCLUSIONS: Mass spectrometry offers high diagnostic accuracy and can be clinically applied to auxiliary diagnostic procedures for lymph node metastasis from NSCLC.


Subject(s)
Carcinoma, Non-Small-Cell Lung , Lung Neoplasms , Humans , Carcinoma, Non-Small-Cell Lung/pathology , Lung Neoplasms/pathology , Lymphatic Metastasis/pathology , Lymph Nodes/pathology , Keratin-19
13.
J Hepatobiliary Pancreat Sci ; 31(3): 203-212, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38014632

ABSTRACT

BACKGROUND/PURPOSE: There is currently no consensus on the use of endoscopic papillectomy (EP) for early stage duodenal ampullary adenocarcinoma. This study aimed to evaluate the feasibility of EP for patients with early stage duodenal ampullary adenocarcinoma. METHODS: Patients who underwent EP for ampullary adenocarcinomas were investigated. Complete and clinical complete resection rates were evaluated. Clinical complete resection was defined as either complete resection or resection with positive or unknown margins but no cancer in the surgically resected specimen, or no recurrence on endoscopy after at least a 1-year follow-up. RESULTS: Adenocarcinoma developed in 30 patients (carcinoma in situ [Tis]: 21, mucosal tumors [T1a(M)]: 4, tumors in the sphincter of Oddi [T1a(OD)]: 5). The complete resection rate was 60.0% (18/30) (Tis: 66.7% [14/21], T1a[M]: 50.0% [2/4], and T1a[OD]: 40.0% [2/5]). The mean follow-up period was 46.8 months. The recurrence rate for all patients was 6.7% (2/30). The clinical complete resection rates of adenocarcinoma were 89.2% (25/28); rates for Tis, T1a(M), and T1a(OD) were 89.4% (17/19), 100% (4/4), and 80% (4/5), respectively. CONCLUSIONS: EP may potentially achieve clinical complete resection of early stage (Tis and T1a) duodenal ampullary adenocarcinomas.


Subject(s)
Adenocarcinoma , Ampulla of Vater , Common Bile Duct Neoplasms , Pancreatic Neoplasms , Humans , Ampulla of Vater/surgery , Ampulla of Vater/pathology , Treatment Outcome , Retrospective Studies , Adenocarcinoma/surgery , Adenocarcinoma/pathology , Endoscopy, Gastrointestinal , Common Bile Duct Neoplasms/diagnostic imaging , Common Bile Duct Neoplasms/surgery , Common Bile Duct Neoplasms/pathology , Pancreatic Neoplasms/pathology
15.
J Hepatobiliary Pancreat Sci ; 31(3): 173-182, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38124014

ABSTRACT

BACKGROUND: The risk and prognosis of pancreatobiliary cancer and in patients with autoimmune pancreatitis (AIP) and IgG4-related sclerosing cholangitis (IgG4-SC) remain unclear. Therefore, we retrospectively investigated the risk of pancreatobiliary cancer and prognosis in patients with AIP and IgG4-SC. METHODS: Patients with AIP and IgG4-SC at seven centers between 1998 and 2022 were investigated. The following data were evaluated: (1) the number of cancers diagnosed and standardized incidence ratio (SIR) for pancreatobiliary and other cancers during the observational period and (2) prognosis after diagnosis of AIP and IgG4-SC using standardized mortality ratio (SMR). RESULTS: This study included 201 patients with AIP and IgG4-SC. The mean follow-up period was 5.7 years. Seven cases of pancreatic cancer were diagnosed, and the SIR was 8.11 (95% confidence interval [CI]: 7.29-9.13). Three cases of bile duct cancer were diagnosed, and the SIR was 6.89 (95% CI: 6.20-7.75). The SMR after the diagnosis of AIP and IgG4-SC in cases that developed pancreatobiliary cancer were 4.03 (95% CI: 2.83-6.99). CONCLUSIONS: Patients with autoimmune pancreatitis and IgG4-SC were associated with a high risk of pancreatic and bile duct cancer. Patients with AIP and IgG4-SC have a worse prognosis when they develop pancreatobiliary cancer.


Subject(s)
Autoimmune Diseases , Autoimmune Pancreatitis , Bile Duct Neoplasms , Cholangitis, Sclerosing , Pancreatic Neoplasms , Pancreatitis , Humans , Pancreatitis/diagnosis , Autoimmune Pancreatitis/complications , Autoimmune Pancreatitis/diagnosis , Retrospective Studies , Autoimmune Diseases/diagnosis , Cholangitis, Sclerosing/complications , Pancreatic Neoplasms/diagnosis , Bile Duct Neoplasms/diagnosis , Immunoglobulin G , Diagnosis, Differential
16.
BMJ Case Rep ; 16(12)2023 Dec 12.
Article in English | MEDLINE | ID: mdl-38086573

ABSTRACT

Contrast-enhanced CT is the gold standard for the diagnosis of acute focal bacterial nephritis (AFBN). However, owing to radiation exposure and the possibility of contrast agent-induced side effects, contrast-enhanced CT is not always recommended for children. A paediatric patient presenting with a 1-week history of fever was admitted to our hospital. After a urine culture detected Escherichia coli, antimicrobials were administered; however, the fever had not resolved by the third day of hospitalisation. Renal diffusion-weighted MRI was performed and showed multiple wedge-shaped areas of high signal intensity in the right kidney. Additionally, the same site showed an area of low signal intensity in the apparent diffusion coefficient, and a diagnosis of AFBN with abscess was made. A chronic-phase technetium-99m-labelled dimercaptosuccinic acid renal scintigraphy was performed, but there was no renal scarring. MRI may be a more suitable tool for diagnosing AFBN given no radiation exposure.


Subject(s)
Abscess , Nephritis , Humans , Child , Abscess/diagnosis , Tomography, X-Ray Computed , Nephritis/diagnostic imaging , Kidney , Diffusion Magnetic Resonance Imaging , Fever , Acute Disease
SELECTION OF CITATIONS
SEARCH DETAIL