We have experienced a case of infantile nephritic syndrome confirmed by renal biopsy in a 13-month-old female patient who showed and develop mental retardation and persistent proteinuria. She revealed mild eyelid edema, joint laxity, delayed speech development and adrenal cortical calcification on the radiologic study. Renal biopsy showed microcystic tubular change, micro-glomeruli and marked mesangial proliferation.
Biopsy ; Edema ; Eyelids ; Female ; Humans ; Infant ; Intellectual Disability ; Joint Instability ; Nephrotic Syndrome* ; Proteinuria

Huntington's disease(HD) is an autosomal dominantly inherited neurodegenerative disease, which is characterized by choreic movement and progressive dementia. HD is a disease caused by CAG repeat expansion of huntintin gene and definitely diagnosed or is excluded by molecular genetic analysis. Juvenile HD, of which onset is in children or young adult, is the most severely disabled type and shows several distinct clinical and genetic features in contrast to usual late-onset type. We report a 10 year-old girl who presented with involuntary movement, seizure and moderate dysarthria confirmed by molecular genetic analysis.
Child ; Chorea ; Dementia ; Dysarthria ; Dyskinesias ; Female ; Humans ; Molecular Biology ; Neurodegenerative Diseases ; Seizures ; Young Adult

Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein IIb-IIIa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in the presence of normal platelet levels and the platelet aggregation test showed lack of aggregation after exposure to ADP, epinephrine and collagen, but showed an aggregation response to ristocetin. Platelet analysis by flow cytometry is a successful alternative rapid diagnostic technique for Glanzmann's thrombasthenia patients as well as for carriers of this disease. Flow cytometry technique provides an effective tool for investigating platelet function defects caused by altered expression or deficiency of platelet surface proteins.
Adenosine Diphosphate ; Ankle Joint ; Arthralgia ; Bleeding Time ; Blood Platelets ; Cell Membrane ; Child ; Collagen ; Epinephrine ; Epistaxis ; Female ; Fibrinogen ; Flow Cytometry* ; Glycoproteins ; Hemorrhagic Disorders ; Humans ; Membrane Proteins ; Platelet Aggregation ; Ristocetin ; Thrombasthenia*

Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein IIb-IIIa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in the presence of normal platelet levels and the platelet aggregation test showed lack of aggregation after exposure to ADP, epinephrine and collagen, but showed an aggregation response to ristocetin. Platelet analysis by flow cytometry is a successful alternative rapid diagnostic technique for Glanzmann's thrombasthenia patients as well as for carriers of this disease. Flow cytometry technique provides an effective tool for investigating platelet function defects caused by altered expression or deficiency of platelet surface proteins.
Adenosine Diphosphate ; Ankle Joint ; Arthralgia ; Bleeding Time ; Blood Platelets ; Cell Membrane ; Child ; Collagen ; Epinephrine ; Epistaxis ; Female ; Fibrinogen ; Flow Cytometry* ; Glycoproteins ; Hemorrhagic Disorders ; Humans ; Membrane Proteins ; Platelet Aggregation ; Ristocetin ; Thrombasthenia*

No abstract available.
Child* ; Humans

Tetanus is a bacterial infection by Clostridium tetani. Its neurotoxin causes spastic paralysis and autonomic dysfunction. Intrathecal infusion of baclofen has been suggested as a pertinent treatment for generalized spasm. Our case describes a patient who had a severe generalized form of tetanus, and was effectively treated with intrathecal baclofen infusion. He showed cerebral and brainstem dysfunction during baclofen infusion, which were reversed without sequelae when baclofen was discontinued.

We evaluated the efficacy of non-competitive N-methyl-D-aspartate receptor antagonist MK-801 (dizocilpine) as an adjuvant therapy in experimental neonal bacterial meningitis. Meningitis was induced by injecting 10(6) colony forming units of Escherichia coli into the cisterna magna. MK-801 3 mg/kg was given as a bolus intravenous injection, 30 min before the induction of meningitis. MK-801 did not down-modulate the inflammatory parameters, such as increased intracranial pressure, cerebrospinal fluid (CSF) leukocytosis, increased lactate and TNF-alpha levels in the CSF, and hypoglycorrhachia observed in the meningitis group. MK-801 did not significantly attenuate the elevated glutamate concentration in the CSF. However, MK-801 showed some neuroprotective effects as evidenced by significant attenuation of cerebral lipid peroxidation products (conjugated dienes) and increase of brain high-energy phosphate compounds (ATP and PCr). Improvement in cerebral cortical cell membrane Na+, K+ -ATPase activity did not reach a statistical significance. These results suggest that MK-801 was effective in ameliorating brain injury in neonatal bacterial meningitis, although it failed to attenuate the inflammatory responses.
Animals ; Animals, Newborn ; Blood Glucose/metabolism ; Brain/cytology ; Brain/drug effects* ; Brain/metabolism ; Cell Membrane/drug effects* ; Cell Membrane/metabolism ; Cerebral Cortex/metabolism ; Dizocilpine Maleate/pharmacology* ; Energy Metabolism* ; Excitatory Amino Acid Antagonists/pharmacology ; Glutamic Acid/cerebrospinal fluid ; Lactic Acid/blood ; Leukocytes/metabolism ; Meningitis, Escherichia coli/drug therapy ; Meningitis, Escherichia coli/metabolism* ; Neurons/drug effects* ; Neurons/metabolism ; Neuroprotective Agents/pharmacology* ; Random Allocation ; Swine ; Tumor Necrosis Factor/cerebrospinal fluid

PURPOSE: Use of a home mechanical ventilator can shorten the hospitalization duration of children with chronic respiratory failure requiring long-term use of a mechanical ventilator. In this study, the researchers analyzed patients who had used a home mechanical ventilator. METHODS: From January 2009 to July 2014, we retrospectively investigated 15 patients under 18 years of age, from 2 hospitals, and their use of home mechanical ventilators. RESULTS: The median age of the patients was 55 months. Ten children were male, and 5 were female. As for the type of mechanical ventilators, 10 used a pressure type, 3 used a volume type, and 2 used a volume-mask type. Analysis of underlying diseases revealed that 10 children had neuromuscular disease, 3 had pulmonary disease, and 2 suffered from hypoxic ischemic encephalopathy. The number of patients who were discharged from the hospital with a home mechanical ventilator was 13. One child died of sepsis irrespective of the mechanical ventilator. Six patients had health insurance. But 9 did not. The group with insurance had the possibility of being discharged earlier than the group without. On readmission, the length of hospitalization was also reduced in patients who had used a home mechanical ventilator. CONCLUSION: Use of a mechanical ventilator at home is helpful in patients who need long-term use of a mechanical ventilator due to neuromuscular disease, chronic pulmonary diseases, and accidents because complications are rare and insurance coverage is feasible.
Child ; Female ; Hospitalization ; Humans ; Hypoxia-Ischemia, Brain ; Insurance Coverage ; Insurance* ; Insurance, Health ; Lung Diseases ; Male ; Neuromuscular Diseases ; Respiratory Insufficiency ; Retrospective Studies ; Sepsis ; Ventilators, Mechanical*

Recent amendments to regulatory frameworks have placed a greater emphasis on the utilization of in vitro testing platforms for preclinical drug evaluations and toxicity assessments. This requires advanced tissue models capable of accurately replicating liver functions for drug efficacy and toxicity predictions. Liver organoids, derived from human cell sources, offer promise as a reliable platform for drug evaluation. However, there is a lack of standardized quality evaluation methods, which hinders their regulatory acceptance. This paper proposes comprehensive quality standards tailored for liver organoids, addressing cell source validation, organoid generation, and functional assessment. These guidelines aim to enhance reproducibility and accuracy in toxicity testing, thereby accelerating the adoption of organoids as a reliable alternative or complementary tool to animal testing in drug development. The quality standards include criteria for size, cellular composition, gene expression, and functional assays, thus ensuring a robust hepatotoxicity testing platform.

BACKGROUND: Loss of bone mass is usually detected after BMT. The causes of bone loss are related with gonadal dysfunction and immunosuppressants. Cytokines, especially IL-6, play an important role in the pathogenesis of postmenopausal osteoporosis. However, the pathogenetic role of cytokines in post-BMT bone loss is unknown and data on the changes of cytokines in accordance with bone turnover markers are scarce. The aim of this study is to assess the relationship of bone turnover markers and cytokines of peripheral blood and bone marrow before and after allogeneic BMT. METHODS: This prospective study included two analyses. The first was a study of 46 BMT recipients, examining the relationship between bone turnover markers and cytokines of serum which were measured before and 1, 2, 3, 4 week and 3 months after BMT. The second was a study of 14 BMT patients, measuring bone marrow plasma cytokines such as IL-6 and TNF-alpha at post-BMT 3 week and bone turnover marker at the same time to assess the relationship between two parameters. RESULTS: Serum ICTP, bone resorption marker, increased progressively until 4 weeks (peak) after BMT and then decreased thereafter. Serum osteocalcin, bone formation marker, decreased progressively until 3 weeks after BMT and then increased thereafter. There was positive correlation between serum ICTP and bone marrow IL-6 levels at the post-BMT 3 week with a statistical significance, but the correlation between bone turnover markers and bone marrow TNF-alpha or peripheral blood cytokines was not found. CONCLUSION: Our data suggest that the progressive increase of bone resorption after BMT is related with the increase of bone marrow IL-6, which is a potent stimulator of bone resorption in vivo.
Bone Marrow Transplantation* ; Bone Marrow* ; Bone Resorption ; Cytokines* ; Female ; Gonads ; Humans ; Immunosuppressive Agents ; Interleukin-6 ; Osteocalcin ; Osteogenesis ; Osteoporosis ; Osteoporosis, Postmenopausal ; Plasma ; Prospective Studies ; Tumor Necrosis Factor-alpha