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Heterotopic bone formation is rare in the gastrointestinal tract. We here present the clinical and pathologic details of a 56-year-old male patient with mucinous adenocarcinoma of the colon and a 70-year-old male patient with colon metastasis previously operated on for signet-ring-cell carcinoma of the stomach who was treated with radiotherapy postoperatively. Both of them showed diffuse bone metaplasia. Heterotopic bone formation is usually present with mucin-producing benign or malignant tumors. The pathogenesis of osseous metaplasia is not well known; however, it is speculated that the extravasation of mucin may have a stimulatory role. [ABSTRACT FROM AUTHOR]

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling., (© 2024 British Society for Haematology and John Wiley & Sons Ltd.)

Background: Human leukocyte antigen (HLA)-G, a member of the HLA family, is crucial for fetomaternal tolerance. Transmembrane or circulating/soluble HLA-G (sHLA-G) is elevated in autoimmune conditions and the tumor microenvironment. Circulating sHLA-G levels and their association with disease activity have not yet been assessed in pediatric patients with inflammatory bowel disease (IBD). This study aimed to quantify the serum sHLA-G levels of pediatric patients with IBD and assess the association of serum sHLA-G with disease activity., Methods: : We enrolled 24 pediatric IBD patients Crohn's disease (CD) and ulcerative colitis (UC), n = 12 each] and 24 healthy controls. Based on the disease activity index, five and seven of the CD patients had mild and moderate/severe disease, respectively, whereas six of the UC patients were in remission and six had mild disease. Serum was collected and sHLA-G levels were determined by enzyme-linked immunosorbent assay (ELISA)., Results: : Pediatric patients with CD had significantly higher sHLA-G levels compared with patients with UC and healthy controls. Notably, serum sHLA-G levels were significantly higher in patients with moderate/severe CD than in those with mild CD., Conclusions: : Serum sHLA-G levels correlate with disease activity in pediatric patients with CD and are higher in CD patients than in UC patients. Thus, sHLA-G is a potential biomarker for disease activity in CD., Competing Interests: None

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Clathrin-mediated endocytosis (CME) is critical for internalisation of molecules across cell membranes. The FCH domain only 1 (FCHO1) protein is key molecule involved in the early stages of CME formation. The consequences of mutations in FCHO1 in humans were unknown. We identify ten unrelated patients with variable T and B cell lymphopenia, who are homozygous for six distinct mutations in FCHO1. We demonstrate that these mutations either lead to mislocalisation of the protein or prevent its interaction with binding partners. Live-cell imaging of cells expressing mutant variants of FCHO1 provide evidence of impaired formation of clathrin coated pits (CCP). Patient T cells are unresponsive to T cell receptor (TCR) triggering. Internalisation of the TCR receptor is severely perturbed in FCHO1-deficient Jurkat T cells but can be rescued by expression of wild-type FCHO1. Thus, we discovered a previously unrecognised critical role of FCHO1 and CME during T-cell development and function in humans.

Background/aim: Non-Wilms renal tumors (NWRTs) are rarely encountered in children. The aim of this study is to determine the treatment strategies, prognosis, outcomes, and survival of children with NWRTs at Erciyes University in Kayseri, Turkey., Materials and Methods: Medical records of all patients (n = 20) treated for NWRTs over a 23-year period (1995–2018) were reviewed retrospectively., Results: There was male predominance (female/male: 7/13); the median age at diagnosis was 3.2 years old (0.1–13.5 years old). The major histological groups included mesoblastic nephroma (MBN), (n: 5, 25%), malignant rhabdoid tumor (MRT), (n: 5, 25%), renal cell carcinoma, (n: 3, 15%), inflammatory myofibroblastic tumor (n: 2, 10%), multilocular cystic renal tumors (n: 2, 10%), metanephric adenoma (n: 1, 5%), renal neuroblastoma (n: 1, 5%), and bilateral renal Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) (n: 1, 5%). All of the patients with NWRTs had radical nephrectomy except the child with bilateral renal ES/PNET. Six children died because of progressive disease; the mortality rate was 30% (n: 6)., Conclusion: We have made the first report of bilateral renal involvement of ES/PNET in the English medical literature. Physicians dealing with pediatric renal masses should be alert to the high mortality rate in children with MRT, MBN, and ES/PNET and they should design substantial management plans for NWRTs., Competing Interests: None declared, (This work is licensed under a Creative Commons Attribution 4.0 International License.)

Background: Invasive fungal infections, including hepatosplenic fungal infections (HSFI), cause significant morbidity and mortality in children with leukemia. There are not enough data to support for the best approach to diagnosis of HSFI in children, nor for the best treatment., Procedure: In this multicentric study, we assessed the demographic data, clinical and radiologic features, treatment, and outcome of 40 children with leukemia and HSFI from 12 centers., Results: All cases were radiologically diagnosed with abdominal ultrasound, which was performed at a median of 7 days, of the febrile neutropenic episode. Mucor was identified by histopathology in 1, and Candida was identified in blood cultures in 8 patients. Twenty-two had fungal infection in additional sites, mostly lungs. Nine patients died. Four received a single agent, and 36 a combination of antifungals., Conclusions: Early diagnosis of HSFI is challenging because signs and symptoms are usually nonspecific. In neutropenic children, persistent fever, back pain extending to the shoulder, widespread muscle pain, and increased serum galactomannan levels should alert clinicians. Abdominal imaging, particularly an abdominal ultrasound, which is easy to perform and available even in most resource-limited countries, should be recommended in children with prolonged neutropenic fever, even in the absence of localizing signs and symptoms.

Background: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67(phox), a key cytoplasmic protein in the phagocyte NADPH oxidase system. NCF2 is localized on chromosome 1q25, encompasses 40 kb and contains 16 exons., Materials and Methods: We report here the clinical and molecular characterization of six patients with CGD from six consanguineous Turkish families. The ages of the five female patients were between 3 and 22 years and a male patient was 2 years old; all patients showed clear clinical symptoms of CGD., Results: The mothers of the patients did not show a bimodal histogram pattern specific for X-CGD in the dihydrorhodamine-1,2,3 (DHR) assay. Moreover, p67(phox) protein expression was not detectable using flow cytometric analysis of the patients' neutrophils except in those from patient 6, which had a diminished expression. Mutation analysis of NCF2 revealed four different homozygous mutations: a novel nonsense mutation in exon 3 c.229C>T, p.Arg77X; a novel missense mutation in exon 4 c.279C>G, p.Asp93Glu; a nonsense mutation in exon 4 c.304C>T, p.Arg102X; and a novel missense mutation in exon 6 c.605C>T, p.Ala202Val. The parents were found to be heterozygotes for these mutations., Conclusions: The prevalence of NCF2 mutant families is approximately 15% in our series of 40 CGD families. This high incidence of A67 CGD in Turkey is undoubtedly caused by the high incidence of consanguineous marriages. We found three new mutations in NCF2 and one previously described. These are presented together with an overview of all NCF2 mutations now known.

Objective: The trisomy 21 (Ts21) or Down's syndrome (DS) phenotype is assumed to occur primarily by the expression/overexpression of some genes encoded by the extra chromosome 21. It has recently been shown by AgNOR staining that babies with Ts21 have more AgNOR area (more NOR proteins) and more RNA content in their peripheral blood mononuclear cells (PBMCs) than those of controls. The aim of this study was to test whether or not the nuclear proteins content of PBMCs from trisomy 21 babies/infants is higher than that of the controls., Method: For this purpose, flow cytometric measurement of the stained PBMC nuclei was used. Nuclei from PBMCs was isolated and stained with propidium iodide and fluorescein isothiocyanate (PI/FITC) for DNA and protein estimation, respectively., Results: Mean nuclear protein content of Ts21's (N = 30, mean age = 3.46 +/- 3.05 years old) PBMCs was found statistically higher than that of the controls (N = 33, mean age = 3.79 +/- 1.93 years old) (P = 0.005, nonparametric Mann-Whitney U test for two independent variables). This means that the average nuclear protein content of PBMC from Ts21 infants is higher than that of the controls. Furthermore, there is a moderate negative correlation between the ages of the studied DS patients and the protein content in the nuclei of their PBMCs (Linear regression analysis: P = 0.002, r = -0.55). This correlation is not found with controls (P = 0.186, r = -0.24)., Conclusion: We have concluded that average protein content of PBMCs' nuclei from DS infants is higher than that of the controls, decreasing significantly with age., ((c) 2007 Clinical Cytometry Society)

Erdheim Chester disease (ECD) is an uncommon, non-Langerhans form of histiocytosis, characterized by long bone sclerosis. To date, only approximately some 100 cases have been reported. The diagnosis is based on its peculiar radiological and pathological features. ECD disease is rarely expected preoperatively. Although the ECD is an adult illness it can rarely be seen in the childhood period. We reported the case of a 10-year-old boy who presented headache, paraparesis and with diabetes inspidus for 6 years. As far as we know, the case presented here is the first published report of intracranial involvement and unilateral bone sclerosis with ECD in childhood.

Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency in which phagocytes cannot destroy catalase-positive bacteria and fungi. In this article, we describe a 6-year-old boy with CGD associated with recurrent multiple hepatic abscesses, hepatic calcification and congenital hearing loss because of rare presentation. To the best of our knowledge, congenital hearing loss in CGD has not been reported in the literature. In the treatment of our patient, a combination of antibiotherapy, percutaneous drainage and surgical intervention was used, but multiple hepatic abscesses recurred during the follow-up. On account of this case, we would like to reemphasize that recurrent hepatic abscesses are frequently observed and difficult to treat in patients with CGD. Additionally, we would like to state that congenital hearing loss may be a part of the disease, or it may be coincidental. To clarify the last point, we suggest that all patients with CGD should be tested for hearing impairment.

The aim of this study was to determine the antibody response to influenza vaccination in children with nephrotic syndrome (NS). Nineteen children with NS and 10 healthy controls were vaccinated with a 1999-2000 influenza vaccine. A dose of 0.25 ml was used for those under 6 years and 0.5 ml for those over 6 years. All children were given two doses with a month between each dose. Antibody titers were measured before vaccination and 1 month after vaccination in both groups and 6 months after vaccination in 8 patients with NS. The proportion of subjects in the nephrotic group with protective antibody titers before immunization (10.5%) was significantly lower than the proportion at 1 (78.9%) and 6 months (87.5%) post vaccination. The mean concentration of specific IgG antibodies to influenza A in the NS group increased 6-fold at 1 month and approximately 14-fold at 6 months. These results suggest that pediatric patients with NS have an adequate antibody response to influenza A vaccine. Protective antibody titers to influenza A were maintained at 6 months after immunization in 8 patients with NS.

A 33-year-old man was admitted with a swelling in the right lobe of the thyroid gland of 1 years duration. Laboratory investigations and thyroid function tests were normal. Thyroid scanning showed a cold nodule in the lower pole of the right thyroid lobe. Thyroid ultrasonography showed multiple cystic nodules in the thyroid gland. To make a differential diagnosis of the thyroid nodule, fine-needle aspiration biopsy (FNAB) was performed and hydatic cyst of the thyroid gland was diagnosed. Subtotal thyroidectomy was carried out and histopathologic examination confirmed the diagnosis. During aspiration biopsy, the patient did not present a clinical picture of anaphylactic reaction. To our knowledge, this is the first case of thyroid hydatic cyst diagnosed by FNAB reported in the literature.

Brucella infection is a systemic disease, but the microorganism rarely causes infections in the gastrointestinal system such as hepatitis, cholecystitis, colitis and pancreatitis. Spontaneous bacterial peritonitis due to Brucella is extremely rare. Herein, we report a case of cirrhosis complicated with nongranulomatous hepatitis and peritonitis, both due to Brucella. A 63 year-old man with diabetes mellitus was admitted to hospital with complaints of weakness, backache, abdominal pain and abdominal swelling. On the basis of physical examination and laboratory findings, cryptogenic cirrhosis and spontaneous bacterial peritonitis were diagnosed. Due to persistent fever and backache, serum Brucella agglutination test was performed and found to be positive. Brucella melitensis was isolated from ascitic fluid culture. Liver biopsy findings revealed cirrhosis and a nongranulomatous hepatitis which was thought might be due to Brucella infection. Doxycycline and rifampicin, in addition to diuretics were administered for spontaneous ascites infection due to Brucella. A week later, the patient's condition improved and he became afebrile. After two months of therapy, the ascites had almost disappeared.

An infant whose face appears symmetrical at rest yet whose mouth is pulled downward to one side when crying is said to have an "asymmetric crying facies". The cause of the facial asymmetry in this disorder is congenital absence or hypoplasia of the depressor anguli oris muscle at the corner of the mouth. Associations of this minor facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and, rarely, the central nervous system. In this article, a 40-day-old boy with asymmetric crying facies associated with malformed right ear, patent foramen ovale, hemivertebrae, thoracic scoliosis, and hemihypertrophy is presented. The last anomaly has not previously been published in association with asymmetric crying facies in the literature according to our knowledge.

We evaluated the clinical and immunological manifestations of 14 children with IgA deficiency. Four of the patients were asymptomatic, and ten were symptomatic, with recurrent sinopulmonary infections, allergic disease, recurrent intestinal giardiasis or celiac disease. Growth retardation was the second important feature in our patients. One of the seven patients with growth retardation had partial growth hormone deficiency. The levels of serum IgG and IgM were high in five and three patients, respectively. Cellular immunity was normal.

This study was designed to investigate the humoral immune status and immunological abnormalities in relation to the pathogenesis of peritonitis in patients undergoing continuous ambulatory peritoneal dialysis (CAPD). The levels of serum and dialysate total protein, immunoglobulins (IgG, IgA, IgM, and IgG subgroups), and C3 were measured at baseline and at the end of the study in 12 children and 10 adult patients on CAPD. The relationship between the levels of immunoglobulin and C3 and the frequency of peritonitis was investigated. Peritonitis occurred at a frequency of one episode every 3.9 and 6.3 patient-months in children at the beginning and at the end of the study, respectively; however, the respective rates for adult patients were one episode every 5.6 and 9.8 patient-months. The levels of serum immunoglobulin and C3 were normal in adults at the beginning and at the end of the study. However, the levels of serum IgG were low in 4 of 12 pediatric patients. Of the 4 patients with low total IgG, IgA was low in 1 and IgM was low in 2 patients. Of 4 patients with low total IgG, 2 also had low IgG1 and IgG2. However, 3 of the patients with normal IgG had low IgG2 levels at the end of the study. The levels of C3 were low in 6 of 12 and in 3 of 10 pediatric patients at the beginning and at the end of the study, respectively. The protein levels of dialysate were increased at 1-year follow-up in both groups, but the difference was only statistically significant in adult patients (P<0.05). No correlation was found between the levels of serum and dialysate immunoglobulin and the frequency of peritonitis in either group. In this study, hypogammaglobulinemia and hypocomplementemia were determined in pediatric patients undergoing CAPD. Although these immunological deficits are not major factors in the occurrence of CAPD-related peritonitis, they may contribute to the frequency of peritonitis.

Sarcoidosis is a multisystem disorder in which the lungs or intrathoracic lymph nodes are involved in more than 90% of patients with the disease. It occasionally involves kidneys most commonly due to disordered calcium metabolism. Granulomatous interstitial nephritis is a distinct renal pathology in sarcoidosis. Renal dysfunction due to granulomatous interstitial nephritis is rare. We recently encountered a sarcoidosis patient without hypercalcemia and any evidence of pulmonary involvement which is distinctly unusual.

X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency. Delayed puberty in patients with X-linked agammaglobulinemia may result in delayed secretion of growth hormone (GH). To determine true isolated growth hormone deficiency. GH stimulation tests and other hypophyseal hormone evaluations must be performed. In this paper, we report a 15-year-old boy with X-linked agammaglobulinemia and isolated growth hormone deficiency, and review related literature.

In this study, we wanted to examine the effect of magnesium (Mg2+) supplementation on the experimental 3-methyl cholanthrene (3-MC)-induced fibrosarcoma and alterations in (Mg2+) distribution in several tissues of the rats, during carcinogenesis. It was determined that serum and tissue (Mg2+) levels of the rats in (Mg2+)-supplemented diet group were higher than those of the rats in the (Mg2+)-nonsupplemented and control groups. The mean time of fibrosarcoma development for (Mg2+)-supplemented group was longer than (Mg2+)-nonsupplemented group (p < 0.05). Symptoms of hypermagnesemia were not observed in any of the rats. These results suggests that dietary (Mg2+) supplementation may have a partial anti-carcinogenic effect on experimental 3-MC-induced fibrosarcoma by prolongation of the latent period of carcinogenesis.

Angiofollicular lymph node hyperplasia or Castleman's Disease (CD) is a rare lymphoproliferative disorder that manifests itself as a local or generalized tumor-like condition affecting both lymph nodes and non-nodal tissues, usually in the chest and abdomen. Hyaline vascular and plasma cell types have been identified histologically. A new clinical form of CD with multisystemic involvement has been defined as multicentric Castleman's disease. It is very rare in childhood. In this paper we present an eight-year-old boy with multicentric Castleman's disease.

The present study was undertaken to evaluate the use of fibrin glue (Tisseel, Immune U.S., Inc) for vasovasostomy and to compare this technique to conventional sutured vasovasostomy. Thirty immature Sprague-Dawley rats, weighing from 60 to 80 g, were used in this study. A conventional one-layer sutured anastomosis (Ethilon 10-O) in 10 rats was compared to a fibrin glue technique of vasal anastomosis (10 rats). The fibrin glue technique was performed without sutures and was unstented. The biological glue was utilized to seal both ends of the vas. The contralateral vas was ligated with 5-O prolein. In the control group (10 rats) the left vas was ligated in the same way, and only the contralateral vas was explored. After 2 months, one male and two female rats were placed in a cage for a further 2 months. At the end of this period, the fertility rate was 80% (n = 8) of the control group, 60% (n = 6) of the conventional anastomosis, and 70% (n = 7) of fibrin glue groups, respectively. The testes and vasal specimens were evaluated for the presence of sperm granuloma, and histologic studies were performed. The incidence of sperm granuloma after vasovasostomy was 20% (n = 2) for the fibrin glue group and 30% (n = 3) for the sutured group. The sperms were seen in the proximal and distal side of the vasal anastomosis in 10 rats in the control group, in 8 in the glue group, and in 8 in the conventional sutured anastomosis group.(ABSTRACT TRUNCATED AT 250 WORDS)

A 13-year-old girl with virginal hypertrophy (bilateral extensive juvenile hypertrophy) of the breasts is presented. Her breasts began to grow rapidly after puberty and reached an enormous size within a year. On examination, both breasts were greatly enlarged. Routine blood chemistry and the endocrinological investigations were normal. The computerized tomography scan of the sella was unremarkable. A bilateral reduction mammaplasty was performed, and histological analysis of the breast tissue revealed the diagnosis of virginal hypertrophy. After four months her breasts began to grow again, and a second mammaplasty was performed. After this operation, tamoxifen citrate was given to prevent recurrence for four months, and during the follow-up period of 20 months, no recurrence was noted.

Three hundred eighty three serum samples obtained from various patient groups and health care personnel were tested for HBsAg, Anti-HCV and Anti-HDV by ELISA technique. Anti-HCV antibodies were found 32.4% of chronic haemodialysis patients, 23% of the patients with chronic viral hepatitis and cirrhosis, 8.3% of health care personnel and less frequently detected in other groups. Anti-HDV antibodies were found 23% of the patients with chronic viral hepatitis and cirrhosis, 2.7% of blood donors, 8.1% of chronic haemodialysis patients and 1.3% of the patients who have malignancy. Anti-HDV antibodies were not detected in other groups.

A unique case is reported of a cervical intramedullary myxoma in an 18-month-old boy who presented with torticollis and monoparesis. Radical removal of the tumor by a planned two-stage procedure was curative.

Anonychia with ectrodactyly is a rare inherited autosomal dominant syndrome. A case of a two-month-old female infant presenting with anonychia in association with ectrodactyly and microcephaly is presented.

Myelography in dogs was performed with Pantopaque, iopamidol and iohexol. The effects of these agents were evaluated by histologic study of the brain, spinal cord, and meninges four months after the procedure. Retained Pantopaque was always accompanied by some degree of arachnoidal reaction, mild in the cervical cord segment and severe in the most caudal part of the cul-de-sac. No apparent protection against Pantopaque arachnoiditis was provided by either intrathecal or intramuscular methylprednisolone. We found no histologic evidence of arachnoiditis in animals examined with iopamidol and iohexol.