ABSTRACT: Unintentional organophosphate compound poisoning, although known, contamination of organophosphate compound through laundered uniform and subsequent transcutaneous absorption, in 30 children is reported herewith for its rarity. Emergency physicians have to recognize such entities clinically, confirm by laboratory means wherever possible, and intervene with appropriate measures.

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome. Mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome. BRAF mutations are involved ...

This paper summarizes environmental investigations (n = 458) conducted during the first 60 years of the epidemic-assistance investigation program at the Centers for Disease Control and Prevention. These investigations were grouped into 10 categories: toxic chemicals (n = 102), indoor air quality and outdoor air toxics (n = 21), new ...

WHIM is an acronym for a rare immunodeficiency syndrome (OMIM #193670) caused by autosomal dominant mutations truncating the C-terminus of the chemokine receptor CXC chemokine receptor 4 (CXCR4). WHIM mutations may potentiate CXCR4 signalling, suggesting that the United States Food and Drug Administration (FDA)-approved CXCR4 antagonist AnorMED3100 (AMD3100) (also known ...

Ricin toxin (RT) is derived from castor beans, produced by the plant Ricinus communis. RT and its toxic A chain (RTA) have been used therapeutically to arm ligands that target disease-causing cells. In most cases these ligands are cell-binding monoclonal antibodies (MAbs). These ligand-toxin conjugates or immunotoxins (ITs) have shown ...

Leukoencephalopathy is a syndrome of neurologic deficits, including alteration of mental status, caused by pathologic changes in the cerebral white matter. The term, toxic leukoencephalopathy, encompasses a wide variety of exposures and clinical presentations. The diagnosis in these syndromes is made by careful attention to the history, clinical features, and ...

Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in ...

Vilain RE, Dudding T, Braye SG, Groombridge C, Meldrum C, Spigelman AD, Ackland S, Ashman L, Scott RJ. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? Familial gastrointestinal stromal tumours (GISTs) are rare but otherwise well-characterized tumour syndromes, most commonly occurring on a background of germline-activating mutations ...

Extrapyramidal syndrome is an uncommon sequelae of acute organophosphorous (OP) poisoning. It is a manifestation of the intermediate syndrome described in OP poisoning. It may or may not be associated with neuroimaging changes in the striatum. We present a case of acute OP poisoning with interesting positive CT scan findings.

In this review, we analyse the role of the endothelium in the development of several complications that appear soon after haematopoietic SCT (HSCT). Once it had been demonstrated that sinusoidal damage is the initiating event of the sinusoidal obstruction syndrome, it was considered that other short-term complications with overlapping clinical ...

The surgical management of a giant condyloma of Buschke and Löwenstein poses particular reconstructive challenges, given the wound size, depth, and infection risk. We present a case where a pedicled anterolateral thigh flap is used to reconstruct a complex wound following resection of a giant condyloma of Buschke and Löwenstein ...

OBJECTIVE: The optimal surgical repair for patients with Marfan syndrome with type A dissection involving the aortic arch is controversial. We retrospectively reviewed our experience of total arch replacement combined with stented elephant trunk implantation for patients with Marfan syndrome with type A dissection. METHODS: Between April 2003 and September ...

Spontaneous osteonecrosis of the navicular in the adult is known as Mueller-Weiss syndrome, which is a rare disease characterized by a collapse of the lateral portion of the tarsal navicular combined with a medial protrusion of the talar head and peri-navicular osteoarthritis. In this article, we describe a case of ...

Study Design: Retrospective study.Objective: To compare arthrodesis techniques for pediatric cervical kyphosis.Summary of Background Data: Cervical kyphosis is rare in the pediatric population. The most common etiologies are acquired instability or an underlying syndrome. The largest pediatric case series in the literature describes the treatment of nine patients.Methods: A retrospective ...

BACKGROUND AND AIMS: The recurrence of type 1 hepatorenal syndrome has been described in up to 20% of responders to terlipressin and albumin after the discontinuation of the treatment. Subsequent recurrence of type 1 hepatorenal syndrome may require long-term treatment with terlipressin and albumin. METHODS: We describe our experience of ...

In 2005, the time-based waiting list for lung transplantation was replaced by an illness/benefit lung allocation score (LAS). Although short-term outcomes after transplantation have been reported to be similar before and after the new system, little is known about long-term results. The objective of this study was to evaluate the ...

Eosinophilic esophagitis (EoE) has been associated with an increased risk of esophageal mucosal tears induced by vomiting to dislodge impacted food or following endoscopic procedures. However, Boerhaave's syndrome or transmural perforation of the organ resulting from vomiting induced to dislodge impacted food has rarely been reported. In this article, we ...

Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three ...

Bronchiolitis obliterans syndrome is a potentially fatal complication of allogeneic hematopoietic cell transplantation that is defined as the development of new fixed airflow obstruction within the first 2 years after transplantation. The prevalence of this syndrome is estimated to be 5.5% among all allogeneic hematopoietic cell transplantation recipients, and 14% ...

MutLα plays an essential role in DNA mismatch repair (MMR) and is additionally involved in other cellular mechanisms such as the regulation of cell cycle checkpoints and apoptosis. Therefore, not only germline MMR gene defects but also the subcellular localization of MutLα might be of importance for the development of ...

The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. Systematically to characterize the ...

We describe a case of severe aortic stenosis in a 16-year-old male with Hurler's syndrome who had prior bone marrow transplantation. The excised aortic valve leaflets showed characteristic pathologic findings of Hurler's syndrome. This is the first case report of aortic valve replacement in a patient with Hurler's syndrome treated ...

X-linked lymphoproliferative syndrome is a well-described syndrome often characterized by progression to fatal infectious mononucleosis. Many mutations of the SH2D1A gene have been identified in patients with X-linked lymphoproliferative syndrome. These mutations are often associated with either decreased or impaired function of the protein product, signaling lymphocytic activation molecule-associated protein. ...

A 6-year-old boy presented with pancytopenia. Bone marrow morphology showed dyspoiesis and cytoplasmic vacuolation in myeloid precursor cells. Cytoplasmic vacuoles are described in erythroid cells in myelodysplastic syndrome (MDS) but are extremely rare in myeloid precursor cells. We ruled out viral and autoimmune etiology, hypocupremia, Pearson syndrome, and chromosomal abnormalities. ...

Acute leukemia with coexisting Gilbert's syndrome treated by allogeneic hematopoietic stem cell transplantation (allo-HSCT) is rarely reported. Here we described a case whose transaminase levels were almost normal, although transient hyperbilirubinemia repeatedly happened during chemotherapy.

Budd-Chiari syndrome is a very rare pathological entity that ultimately leads to liver failure. Several therapeutic modalities, including percutaneous transluminal angioplasty, have been attempted to save the life of patients with Budd-Chiari syndrome. Few reports have described a salvage living donor liver transplantation performed after percutaneous transluminal angioplasty in a ...

The 13513G>A mutation in the ND5 gene of mitochondrial DNA (mtDNA) is usually associated with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS), or Leigh syndrome (LS). In this study, we describe three young Chinese patients with MELAS/LS overlap syndrome who carried the m.13513G>A mutation. Clinical and MRI features ...

Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients ...

The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving craniofacial dysostosis and limb anomalies. Depending on the type of limb defects, two major groups have been defined: Nager syndrome with predominant preaxial anomalies and Miller syndrome with postaxial malformations. Genomic copy number variation, a common type of genomic ...

There are several well-characterized hereditary syndromes that predispose to the development of tumors of the nervous system, and that result from germline mutations in high-penetrance genes. In this review, we provide a brief overview of these syndromes. The elucidation of the molecular basis of hereditary syndromes has greatly contributed to ...

Peters plus syndrome is an autosomal recessive rare congenital disorder defined by corneal Peters anomaly with short disproportionate stature, development delay and dysmorphic facial features. In addition, cardiac, genito-urinary and/or central nervous system malformations can be present. Mutations in the beta-1,3-galactosyltransferase-like glycosyltransferase gene (B3GALTL) have been reported in patients with ...

Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, ...

Exceptionally, gastrointestinal involvement of Churg-Strauss syndrome (CSS) may require extensive bowel resection resulting in a short bowel syndrome. Living related intestinal transplantation (IT) has emerged as an alternative to deceased-donor IT in the management of patients with irreversible short bowel syndrome. Herein, we have presented a 35-year-old patient with isolated ...

The term acute aortic syndrome refers to a heterogeneous group of conditions that cause a common set of signs and symptoms, the foremost of which is aortic pain. Various pathologic entities may give rise to this syndrome, but the topic has come to focus on penetrating aortic ulcer and intramural ...

Bronchiolitis obliterans syndrome (BOS) is a pulmonary complication of allogeneic hematopoietic cell transplantation (aHCT). Recent National Institutes of Health consensus diagnostic criteria for BOS have not been assessed in a clinical setting. Modified National Institutes of Health diagnostic consensus criteria for BOS were applied to evaluate its prevalence, risk factors, ...

Oral-Facial-Digital 1 (OFD1) Syndrome is an X-linked developmental disorder caused by mutations in the gene Ofd1. OFD1 syndrome involves malformation of the face, oral cavity, and digits and may be characterized by cystic kidneys and mental retardation. Deletion or missense mutations in Ofd1 also result in loss of primary cilia, ...

We present a case report of cryptococcal immune reconstitution syndrome (IRS), in a non HIV infected patient, which we treated with hydroxychloroquine with successful results. We briefly review cryptococcal IRS, possible mechanisms of action of hydroxychloroquine as an immunomodulatory agent, and its potential role in management of IRS.

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures and features ...

Haploinsufficiency for ribosomal protein genes has been implicated in the pathophysiology of Diamond-Blackfan anemia (DBA) and the 5q-syndrome, a subtype of myelodysplastic syndrome. The p53 pathway is activated by ribosome dysfunction, but the molecular basis for selective impairment of the erythroid lineage in disorders of ribosome function has not been ...

The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of ...

Myelodysplastic Syndromes (MDS) are a heterogeneous group of acquired clonal bone marrow disorders, characterised by ineffective hematopoiesis. The mechanisms underlying many of these blood disorders have remained elusive due to the difficulty in pinpointing specific gene mutations or haplo-insufficencies, which can occur within large deleted regions. However, there is an ...

We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. ...

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and ...

We report the case of a 15-year-old girl who presented to a pediatric endocrinology clinic for delayed puberty with no signs of secondary sexual development. Her past medical history was significant for bilateral colobomas, inner-ear anomalies, hearing loss, and anosmia. Genetic testing revealed a novel de novo mutation in the ...

Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cause of the syndrome. We report on two sisters in a Thai family with short and malformed long bones, absent ...

Apert syndrome is a congenital disorder caused mainly by two neighboring mutations on fibroblast growth factor receptor 2 (FGFR2). Premature closure of the coronal suture is commonly considered the identifying and primary defect triggering or preceding the additional cranial malformations of Apert phenotype. Here we use two transgenic mouse models ...

Mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26), cause either non-syndromic hearing loss or syndromes affecting both hearing and skin. We have investigated whether dominant Cx26 mutants can interact physically with wild type Cx26. HeLa cells stably expressing wild type Cx26 were transiently transfected to ...

Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, microphthalmia, postnatal microcephaly, and developmental delay. The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe motor and mental retardation are common. While biallelic loss-of-function mutations ...

We report an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. We identified the molecular defect that causes this syndrome, using a combined strategy of gene-expression ...

Loeys-Dietz syndrome (LDS) results from mutations in the TGFBR1 or TGFBR2 genes and is known to cause aggressive cardiovascular disease, including aortic aneurysms and dissections at an early age. Currently, craniofacial, skeletal, and cardiovascular findings play an important role in early recognition of the disease. While many patients do have ...