Characteristics and outcomes of avoidant/restrictive food intake disorder in Japanese elementary-school students on total parenteral nutrition.

The clinical outcomes of adolescents with avoidant/restrictive food intake disorder (ARFID) remain unclear. Furthermore, no report has compared the characteristics of ARFID and restricting-type anorexia nervosa (R-AN) in elementary-school students on total parenteral nutrition (TPN). This study retrospectively reviewed inpatients diagnosed with ARFID or R-AN between 2005 and 2019. Patients with ARFID (two boys and seven girls) and R-AN (13 girls) were hospitalized because of rapid physical deterioration, and nutrition therapy was continued without withdrawal. The ARFID group exhibited significantly lower body weights at admission than the R-AN group and gained an average of 6.5 kg during hospitalization; furthermore, the monthly weight gain during hospitalization was significantly higher, and no relapse was observed. Early physical improvement in ARFID resulted in good recovery. In conclusion, TPN can be easily introduced to patients with ARFID, in whom aversive eating is a concern, and is a suitable treatment for ARFID.

Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura.

Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this operation, the patient had no severe complications. A sequence analysis of the KMT2D gene identified a pathogenic mutation frequently associated with ITP. Laparoscopic splenectomy is therefore considered to be a good therapeutic option for recurrent ITP and symptomatic splenomegaly with Kabuki syndrome.

Candida guilliermondii-induced chorioretinitis in a patient with eating disorder.

Candidemia is a life-threatening fungal infection among patients undergoing long-term intravenous catheterization, hematopoietic stem cell transplantation, or immunosuppressive therapy, as well as patients with severe immunodeficiency or cancer. Endophthalmitis is a rare but severe form of ocular inflammation caused by infection of the intraocular cavity, which can lead to irreversible visual loss if not treated properly and promptly. The initial manifestation typically involves chorioretinitis, which requires early diagnosis and appropriate treatment. Candida guilliermondii is a non-Candida albicans yeast species; its frequency of detection in Japan has increased in recent years, and many drug-resistant and less-chorioretinitis-related strains are known. Here, we describe a 17-year-old girl with an eating disorder who exhibited chorioretinitis because of catheter-related bloodstream infection (CRBSI) caused by C. guilliermondii. The patient was hospitalized with severe weight loss, and she was presumed to develop candidemia because of immunosuppression during central parenteral nutrition therapy with a peripherally inserted central catheter. After onset of CRBSI, the catheter was immediately removed. Antifungal therapy was modified following fundus examination, fungal species confirmation, and drug sensitivity confirmation; thus, the patient recovered without long-term complications. To the best of our knowledge, this is the first report of C. guilliermondii-induced chorioretinitis in a patient with an eating disorder. Prolonged malnutrition and immunosuppression during nutritional therapy create a risk of candidemia in patients with eating disorders. After the onset of CRBSI, early administration and appropriate use of antifungal agents, with respect to specific ocular complications, are important for reduction of both mortality and ocular complications.

Adolescent eating disorder with catheter-related bloodstream infection.

BACKGROUND: Treatment of adolescent eating disorder requires early improvement of nutritional status. Central venous hyperalimentation is used but catheter-related bloodstream infection (CRBSI) is a complication. There have been no reports examining risk factors for CRSBI in eating disorders. METHODS: The subjects were 51 patients who received nutritional therapy with the use of a peripherally inserted central catheter (PICC) from January 2012 to December 2019. The courses of weight and white blood cell (WBC) count were examined retrospectively during nutritional therapy. Onset factors for CRBSI were determined and a case series of CRBSI caused by Candida parapsilosis is presented. RESULTS: The day of minimum weight occurred on or before day 7 in 37 of the 51 patients, and this day was preceded by the day with the lowest WBC at a significant rate. The minimum weight day was significantly delayed in CRSBI cases compared with non-CRBSI cases (P = 0.02). In the case series of CRBSI caused by C. parapsilosis, the median WBC count before CRBSI decreased to 2,570 (1,680-3,270)/µL at a median of day (12-90) 36. Catheter-related bloodstream infection developed at a median of day (26-133) 38. The PICC was immediately removed and an antifungal drug was started, leading to cure with no after effects in all subjects. CONCLUSIONS: In patients with an eating disorder treated with nutritional therapy using a PICC, prolonged resistance to weight gain became a risk factor for developing CRBSI. White blood cell counts recover after weight gain, which suggests that there is a risk of developing CRBSI, even with improved appetite and weight gain.

Total parenteral nutrition treatment efficacy in adolescent eating disorders.

BACKGROUND: Management of adolescent patients with severe eating disorders who refuse treatment for weight loss is complicated. Nutritional rehabilitation is most important during the growth period; thus, strong support in the form of total parenteral nutrition (TPN) as soon as possible is necessary in severe cases. No studies involving detailed, long-term follow up have evaluated biochemical markers and gonadotropin in patients undergoing TPN treatment. METHODS: Twenty-five adolescent female patients admitted to hospital received TPN immediately, and biochemical marker and gonadotropin levels were measured and analyzed. If subsequent weight gain was observed, TPN treatment was gradually reduced and stopped. RESULTS: No patients dropped out of the study. A significant increase in weight was observed during hospitalization (average, 8.0 kg). Under this treatment, serum total bilirubin was significantly decreased at 3 months, total cholesterol was significantly decreased at 2 months, and alkaline phosphatase (ALP) was significantly increased at 3 and 6 months. Follicle-stimulating hormone response significantly preceded both luteinizing hormone response and appetite recovery. After this treatment, nine of the 25 patients were readmitted for recurrence of appetite loss. Two patients required additional TPN treatment, but seven immediately recovered their appetite after hospitalization without TPN treatment. Bodyweight gain per day was significantly lower and ALP on admission was significantly higher in patients with than without recurrence. CONCLUSIONS: Most patients had a remarkable recovery of appetite without refusal behaviors and without evidence of malnutrition after admission. Nutrition maintenance with TPN support is particularly important during the growth period.

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.

OBJECTIVE: Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features. METHOD: In cooperation with academic societies, we analyzed the genomic copy number aberrations using chromosomal microarray testing. Finally, the genotype-phenotype correlation among them was examined. RESULTS: We obtained clinical information of 86 patients who had been diagnosed with chromosomal deletions in the 1p36 region. Among them, blood samples were obtained from 50 patients (15 males and 35 females). The precise deletion regions were successfully genotyped. There were variable deletion patterns: pure terminal deletions in 38 patients (76%), including three cases of mosaicism; unbalanced translocations in seven (14%); and interstitial deletions in five (10%). Craniofacial/skeletal features, neurodevelopmental impairments, and cardiac anomalies were commonly observed in patients, with correlation to deletion sizes. CONCLUSION: The genotype-phenotype correlation analysis narrowed the region responsible for distinctive craniofacial features and intellectual disability into 1.8-2.1 and 1.8-2.2 Mb region, respectively. Patients with deletions larger than 6.2 Mb showed no ambulation, indicating that severe neurodevelopmental prognosis may be modified by haploinsufficiencies of KCNAB2 and CHD5, located at 6.2 Mb away from the telomere. Although the genotype-phenotype correlation for the cardiac abnormalities is unclear, PRDM16, PRKCZ, and RERE may be related to this complication. Our study also revealed that female patients who acquired ambulatory ability were likely to be at risk for obesity.

Open-sandwich molecular imprinting: making a recognition matrix with antigen-imprinted antibody fragments.

A novel antibody-polymer conjugation method termed open-sandwich molecular imprinting (OS-MIP) has been proposed to produce a specific recognition matrix in the presence of a target antigen. The resultant carboxymethyldextran matrix conjugated with two separate antibody variable region fragments imprinted with the cognate antigen showed higher antigen-binding capacity than non-imprinted ones and was successfully used to sensitively monitor multiple antigen binding/desorption events by a surface plasmon resonance biosensor. Furthermore, when each fragment was labeled with different fluorophores before conjugation, the fluorescence signals of the matrix made by OS-MIP clearly showed an antigen concentration dependent increase in Förster resonance energy transfer between the two dyes. By using a combination of various methods for detecting interaction, OS-MIP will be a useful platform for detecting various targets from small molecules to proteins with high sensitivity and specificity.

Chemokine expression in human astrocytes in response to shiga toxin 2.

Infection with Shiga toxin- (Stx-) producing Escherichia coli can lead to hemolytic uremic syndrome (HUS). Approximately, 30% of patients with HUS suffer from complications in the central nervous system (CNS), which is an important determinant of mortality in such patients. Autopsy shows mostly edema and hypoxic-ischemic changes in the CNS, often with microhemorrhages. It has been suggested that Stx-induced damage to human brain endothelial cells, which are essential constituents of the blood-brain barrier, plays a crucial role in the development of the CNS complications. However, it is unclear whether Stx affects brain neuroglial cells. In the present study, we investigated the direct involvement of Stx in the inflammatory responses of human astrocytes (HASTs) treated with Stx. Immunohistochemistry and real-time PCR revealed that the expression of globotriaosylceramide (Gb3), the receptor for Stx2, and Gb3 synthase (GalT6) in HASTs was increased by interleukin-1ß (IL-1ß). Expression of both interleukin-8 (IL-8) and monocyte chemoattractant protein-1 (MCP-1) mRNA in HASTs was significantly upregulated by Stx2. These results suggest that Stx2 induces inflammatory responses, particularly through expression of chemokines, in HASTs expressing Gb3 and may, thus, affect brain glial cells, playing a key role in the pathogenesis of CNS manifestations associated with HUS.

Acute encephalopathy and rhabdomyolysis following rotavirus gastroenteritis.

Rotavirus is a common cause of severe gastroenteritis in children, and other unusual extraintestinal manifestations have also been attributed to the virus. We report a case of acute encephalopathy and rhabdomyolysis following rotavirus gastroenteritis in a 6-month-old infant.

Cerebrospinal fluid cytokines in Salmonella urbana encephalopathy.

We present a case report of encephalopathy associated with Salmonella urbana infection in a child. A 5-year-old boy was admitted to our clinic with convulsions and coma. Cerebrospinal fluid (CSF) interleukin-6 (IL-6) and IL-8 were elevated at onset and were decreased within normal limit on the fifth day. Residual neurological deficits included severe mental deficits and spastic tetraplegia. High levels of CSF proinflammatory cytokines might be related to central nervous system (CNS) disease activity. Although encephalopathy is a rare complication of non-typhi Salmonella infection, it should be borne in mind as an occasionally serious and potentially lethal disease.

Septo-optic dysplasia with congenital hepatic fibrosis.

This article reports a 7-year-old female with septo-optic dysplasia and congenital hepatic fibrosis. She manifested nystagmus and severe hepatosplenomegaly. Brain magnetic resonance imaging revealed agenesis of the septum pellucidum, optic nerve hypoplasia, pituitary gland stalk hypoplasia, and absence of the posterior pituitary gland. She was diagnosed with growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency. Thus, this case was regarded as septo-optic dysplasia. No mutation was evident in the coding and boundary regions of the homeobox gene HESX1. Percutaneous biopsy of the liver demonstrated the presence of broad septa of fibrous tissue containing abundant bile ducts without inflammatory cell infiltrates, a finding compatible with congenital hepatic fibrosis. Although there is an association between septo-optic dysplasia and neonatal cholestasis, believed to be related to hypopituitarism, this case of septo-optic dysplasia with congenital hepatic fibrosis is apparently the first reported in the English literature.

Pyomyositis of the vastus medialis muscle associated with Salmonella enteritidis in a child.

We describe a 23-month-old boy with pyomyositis of the vastus medialis muscle caused by Salmonella enteritidis. Such focal Salmonella infections are uncommon in soft tissue. It is noteworthy of this case that there were no antecedent signs of gastroenteritis and no underlying medical condition. MRI, in particular the fat-suppressed T2-weighted sequence, is helpful for establishing the diagnosis and differentiating pyomyositis from other pathological conditions.