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Sample records for ependimoma infantil tratamiento

  1. Ependimoma myxopapilar sacro gigante con osteolisis

    PubMed Central

    Ajler, Pablo; Landriel, Federico; Goldschmidt, Ezequiel; Campero, Álvaro; Yampolsky, Claudio

    2014-01-01

    Objetivo: la presentación de un caso de una paciente con un ependimoma sacro con extensa infiltración y destrucción ósea local. Descripción del caso: una mujer de 53 años acudió a la consulta por dolor lumbosacro y alteraciones sensitivas perineales y esfinterianas. La imágenes por Resonancia Magnética (IRM) y la Tomografía Axial Computada (TAC) mostraron una lesión expansiva gigante a nivel S2-S4 con extensa osteólisis e invasión de tejidos adyacentes. Se realizó una exéresis tumoral completa con mejoría del estatus funcional. La anatomía patológica informó ependimoma mixopapilar. Discusión: la extensión de la resección quirúrgica es el mejor predictor de buen pronóstico. El tratamiento radiante se reserva como opción adyuvante para las resecciones incompletas y recidiva tumoral. La quimioterapia sólo debería utilizarse en casos en que la cirugía y la radioterapia estén contraindicadas. Conclusión: Los ependimomas mixopapilares sacros con destrucción ósea y presentación intra y extradural son muy infrecuentes y deben ser tenidos en cuenta entre los diagnósticos diferenciales preoperatorios. Su resección total, siempre que sea posible, es la mejor alternativa terapéutica. PMID:25165615

  2. Infantilizing Autism.

    PubMed Central

    Stevenson, Jennifer L.; Harp, Bev; Gernsbacher, Morton Ann

    2014-01-01

    When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism. Parents portrayed the face of autism to be that of a child 95% of the time on the homepages of regional and local support organizations. Nine of the top 12 autism charitable organizations restricted descriptions of autism to child-referential discourse. Characters depicted as autistic were children in 90% of fictional books and 68% of narrative films and television programs. The news industry featured autistic children four times as often as they featured autistic adults in contemporary news articles. The cyclical interaction between parent-driven autism societies, autism fundraising charities, popular media, and contemporary news silences adult self-advocates by denying their very existence. Society's overwhelming proclivity for depicting autism as a disability of childhood poses a formidable barrier to the dignity and well-being of autistic people of all ages. PMID:25520546

  3. Acute infantile motor unit disorder. Infantile botulism?

    PubMed

    Clay, S A; Ramseyer, J C; Fishman, L S; Sedgwick, R P

    1977-04-01

    Eight infants with an acute reversible motor unit disorder are described, including two infants from whom Clostridum botulinum type A was isolated from stool specimens. The clinical spectrum includes constipation, cranial nerve deficits, pupillary involvement, and generalized hypotonic weakness. There were no deaths, and all infants have had complete clinical recovery. A characteristic electromyographic (EMG) pattern was present in part until clinical recovery. This distinctive pattern consisted of brief, small, abundant for power exerted motor unit potentials. This EMG pattern in the context of the clinical syndrome may well be diagnostic for acute infantile motor unit disorder.

  4. Pathogenesis of infantile haemangioma.

    PubMed

    Greenberger, S; Bischoff, J

    2013-07-01

    Haemangioma is a vascular tumour of infancy that is well known for its rapid growth during the first weeks to months of a child's life, followed by a spontaneous but slow involution. During the proliferative phase, the vessels are disorganized and composed of immature endothelial cells. When the tumour involutes, the vessels mature and enlarge but are reduced in number. Fat, fibroblasts and connective tissue replace the vascular tissue, with few, large, feeding and draining vessels evident. Both angiogenesis and vasculogenesis have been proposed as mechanisms contributing to the neovascularization in haemangioma tumours. In recent years, several of the 'building blocks', the cells comprising the haemangioma, have been isolated. Among them are haemangioma progenitor/stem cells, endothelial cells and pericytes. This review focuses on these cell types, and the molecular pathways within these cells that have been implicated in driving the pathogenesis of infantile haemangioma.

  5. Genetics Home Reference: infantile systemic hyalinosis

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions infantile systemic hyalinosis infantile systemic ...

  6. Infantile amnesia: a neurogenic hypothesis.

    PubMed

    Josselyn, Sheena A; Frankland, Paul W

    2012-08-16

    In the late 19th Century, Sigmund Freud described the phenomenon in which people are unable to recall events from early childhood as infantile amnesia. Although universally observed, infantile amnesia is a paradox; adults have surprisingly few memories of early childhood despite the seemingly exuberant learning capacity of young children. How can these findings be reconciled? The mechanisms underlying this form of amnesia are the subject of much debate. Psychological/cognitive theories assert that the ability to maintain detailed, declarative-like memories in the long term correlates with the development of language, theory of mind, and/or sense of "self." However, the finding that experimental animals also show infantile amnesia suggests that this phenomenon cannot be explained fully in purely human terms. Biological explanations of infantile amnesia suggest that protracted postnatal development of key brain regions important for memory interferes with stable long-term memory storage, yet they do not clearly specify which particular aspects of brain maturation are causally related to infantile amnesia. Here, we propose a hypothesis of infantile amnesia that focuses on one specific aspect of postnatal brain development--the continued addition of new neurons to the hippocampus. Infants (humans, nonhuman primates, and rodents) exhibit high levels of hippocampal neurogenesis and an inability to form lasting memories. Interestingly, the decline of postnatal neurogenesis levels corresponds to the emergence of the ability to form stable long-term memory. We propose that high neurogenesis levels negatively regulate the ability to form enduring memories, most likely by replacing synaptic connections in preexisting hippocampal memory circuits.

  7. Infantile Hemangioma: A Brief Review

    PubMed Central

    BOTA, MADALINA; POPA, GHEORGHE; BLAG, CRISTINA; TATARU, ALEXANDRU

    2015-01-01

    Infantile hemangiomas as frequent infancy tumors have been a controversial issue of medical scientists worldwide. Their clinical aspects are various and their physiopathology is yet to be fully understood. Numerous publications outline the characteristics, causes, evolution possibilities and therapeutic approaches. Deciding whether to treat or not is the main question of this kind of pathology. Hemangiomas that have complications or can cause irreversible damage need therapy. This is a brief review of up-to-date information regarding the presentation of infantile hemangiomas and target-therapies. PMID:26528043

  8. Modeling new therapies for infantile spasms

    PubMed Central

    Chudomelova, Lenka; Scantlebury, Morris H.; Raffo, Emmanuel; Coppola, Antonietta; Betancourth, David; Galanopoulou, Aristea S.

    2010-01-01

    Summary Infantile spasms are the classical seizure type of West syndrome. Infantile spasms often herald a dismal prognosis, due to the high probability to evolve into intractable forms of epilepsies with significant cognitive deficits, especially if not adequately treated. The current therapies, high doses of adrenocorticotropic hormone, steroids or the GABA transaminase inhibitor vigabatrin, are often toxic and may not always be effective. The need to identify new therapies for spasms has led to the generation of a number of rodent models of infantile spasms. These include acute and chronic models of infantile spasms, with cryptogenic or symptomatic origin, many of which are based on specific etiologies. In this review, we will summarize the clinical experience with treating infantile spasms, the main features of the new animal models of infantile spasms and discuss their utility in the preclinical development of new therapies for infantile spasms. PMID:20618396

  9. Biology of Infantile Hemangioma

    PubMed Central

    Itinteang, Tinte; Withers, Aaron H. J.; Davis, Paul F.; Tan, Swee T.

    2014-01-01

    Infantile hemangioma (IH), the most common tumor of infancy, is characterized by an initial proliferation during infancy followed by spontaneous involution over the next 5–10 years, often leaving a fibro-fatty residuum. IH is traditionally considered a tumor of the microvasculature. However, recent data show the critical role of stem cells in the biology of IH with emerging evidence suggesting an embryonic developmental anomaly due to aberrant proliferation and differentiation of a hemogenic endothelium with a neural crest phenotype that possesses the capacity for endothelial, hematopoietic, mesenchymal, and neuronal differentiation. Current evidence suggests a putative placental chorionic mesenchymal core cell embolic origin of IH during the first trimester. This review outlines the emerging role of stem cells and their interplay with the cytokine niche that promotes a post-natal environment conducive for vasculogenesis involving VEGFR-2 and its ligand VEGF-A and the IGF-2 ligand in promoting cellular proliferation, and the TRAIL-OPG anti-apoptotic pathway in preventing cellular apoptosis in IH. The discovery of the role of the renin–angiotensin system in the biology of IH provides a plausible explanation for the programed biologic behavior and the β-blocker-induced accelerated involution of this enigmatic condition. This crucially involves the vasoactive peptide, angiotensin II, that promotes cellular proliferation in IH predominantly via its action on the ATIIR2 isoform. The role of the RAS in the biology of IH is further supported by the effect of captopril, an ACE inhibitor, in inducing accelerated involution of IH. The discovery of the critical role of RAS in IH represents a novel and fascinating paradigm shift in the understanding of human development, IH, and other tumors in general. PMID:25593962

  10. [Infantile cortical hyperostosis: Case report].

    PubMed

    Rodríguez, Mónica; Martínez, Luz Elena; Cortés, José; de Uña, Armando; Vega, Valentina; Acosta, Mario

    Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent.

  11. Neonatal and infantile acne vulgaris: an update.

    PubMed

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  12. Infantile masturbation and paroxysmal disorders.

    PubMed

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

  13. Infantile colic, facts and fiction

    PubMed Central

    2012-01-01

    Infantile colic is one of the major challenges of parenthood. It is one of the common reasons parents seek medical advice during their child’s first 3 months of life. It is defined as paroxysms of crying lasting more than 3 hours a day, occurring more than 3 days in any week for 3 weeks in a healthy baby aged 2 weeks to 4 months. Colic is a poorly understood phenomenon affecting up to 30% of babies, underlying organic causes of excessive crying account for less than 5%. Laboratory tests and radiological examinations are unnecessary if the infant is gaining weight normally and has a normal physical examination. Treatment is limited and drug treatment has no role in management. Probiotics are now emerging as promising agents in the treatment of infantile colic. Alternative medicine (Herbal tea, fennel, glucose and massage therapy) have not proved to be consistently helpful and some might even be dangerous. In conclusion infantile colic is a common cause of maternal distress and family disturbance, the cornerstone of management remains reassurance of parents regarding the benign and self-limiting nature of the illness. There is a critical need for more evidence based treatment protocols. PMID:22823993

  14. Infantile spasms: A prognostic evaluation

    PubMed Central

    Iype, Mary; Saradakutty, Geetha; Kunju, Puthuvathra Abdul Mohammed; Mohan, Devi; Nair, Muttathu Krishnapanicker Chandrasekharan; George, Babu; Ahamed, Shahanaz M.

    2016-01-01

    Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging. PMID:27293335

  15. Practice Parameter: Medical Treatment of Infantile Spasms

    PubMed Central

    Mackay, M.T.; Weiss, S.K.; Adams-Webber, T.; Ashwal, S.; Stephens, D.; Ballaban-Gill, K.; Baram, T.Z.; Duchowny, M.; Hirtz, D.; Pellock, J.M.; Shields, W.D.; Shinnar, S.; Wyllie, E.; Snead, O.C.

    2010-01-01

    Objective To determine the current best practice for treatment of infantile spasms in children. Methods Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmia. Outcome measures included complete cessation of spasms, resolution of hypsarrhythmia, relapse rate, developmental outcome, and presence or absence of epilepsy or an epileptiform EEG. One hundred fifty-nine articles were selected for detailed review. Recommendations were based on a four-tiered classification scheme. Results Adrenocorticotropic hormone (ACTH) is probably effective for the short-term treatment of infantile spasms, but there is insufficient evidence to recommend the optimum dosage and duration of treatment. There is insufficient evidence to determine whether oral corticosteroids are effective. Vigabatrin is possibly effective for the short-term treatment of infantile spasm and is possibly also effective for children with tuberous sclerosis. Concerns about retinal toxicity suggest that serial ophthalmologic screening is required in patients on vigabatrin; however, the data are insufficient to make recommendations regarding the frequency or type of screening. There is insufficient evidence to recommend any other treatment of infantile spasms. There is insufficient evidence to conclude that successful treatment of infantile spasms improves the long-term prognosis. Conclusions ACTH is probably an effective agent in the short-term treatment of infantile spasms. Vigabatrin is possibly effective. PMID:15159460

  16. Food allergy and infantile autism.

    PubMed

    Lucarelli, S; Frediani, T; Zingoni, A M; Ferruzzi, F; Giardini, O; Quintieri, F; Barbato, M; D'Eufemia, P; Cardi, E

    1995-09-01

    The etiopathogenesis of infantile autism is still unknown. Recently some authors have suggested that food peptides might be able to determine toxic effects at the level of the central nervous system by interacting with neurotransmitters. In fact a worsening of neurological symptoms has been reported in autistic patients after the consumption of milk and wheat. The aim of the present study has been to verify the efficacy of a cow's milk free diet (or other foods which gave a positive result after a skin test) in 36 autistic patients. We also looked for immunological signs of food allergy in autistic patients on a free choice diet. We noticed a marked improvement in the behavioural symptoms of patients after a period of 8 weeks on an elimination diet and we found high levels of IgA antigen specific antibodies for casein, lactalbumin and beta-lactoglobulin and IgG and IgM for casein. The levels of these antibodies were significantly higher than those of a control group which consisted of 20 healthy children. Our results lead us to hypothesise a relationship between food allergy and infantile autism as has already been suggested for other disturbances of the central nervous system.

  17. Management of difficult infantile haemangiomas.

    PubMed

    Maguiness, Sheilagh M; Frieden, Ilona J

    2012-03-01

    Infantile haemangiomas are common vascular tumours of infancy. They typically present shortly after birth, undergo a period of rapid proliferation, and then slowly involute over many years. Although most patients require no intervention, appropriate investigation and treatment may be necessary in a minority of cases. Identifying which patients require further investigation or intervention can be difficult due to the heterogeneity of clinical presentation. This is compounded by a lack of rigorous randomised controlled trials on haemangioma management. Therefore, the rationale for treatment is not always straightforward. Haemangiomas occur anywhere on the body, have superficial, deep or mixed morphology, and depending on anatomic location, size and subtype, can be associated with underlying structural anomalies and many other potential complications. Generally, the management of difficult haemangiomas is best approached on a case-by-case basis. Over the last few years, there have been several advances in our understanding of haemangiomas, together with some exciting new therapeutic options. In the following review, the authors discuss the various possible complications of infantile haemangiomas, the rationale for treatment and appropriate possible interventions.

  18. Signaling mechanisms in infantile hemangioma

    PubMed Central

    Boye, Eileen; Olsen, Bjorn R.

    2010-01-01

    Purpose of review Infantile hemangioma is a common vascular tumor with a unique lifecycle: rapid growth in infancy, followed by a period of involution, leading to complete regression. This review summarizes recent studies of molecular mechanisms of hemangioma formation and places new findings and hypotheses in the context of past accomplishments. Recent findings The new work identifies a novel signaling pathway for vascular growth factor and extracellular matrix regulation in vascular endothelial cells and provides a basis for novel therapeutic strategies. In hemangioma-derived endothelial cells defects in a vascular endothelial growth factor receptor/integrin complex reduce the expression of a vascular endothelial growth factor decoy receptor. As a consequence, hemangioma endothelial cells exhibit constitutive vascular endothelial growth factor signaling. Germ-line mutations in components of the growth factor receptor/integrin complex in some hemangioma patients, and somatic mutations in a phosphatase in sporadic hemangioma specimens, raise the possibility that hemangioma formation involves a combination of germline risk factor mutations and somatic mutations, similar to what recent studies have shown is the case for venous malformations. Summary Alterations in pathways that negatively control vascular endothelial growth factor signaling in vascular endothelial cells are responsible for the formation and rapid growth of infantile hemangiomas. PMID:19367160

  19. The Link Between Infantile Colic and Migraine.

    PubMed

    Qubty, William; Gelfand, Amy A

    2016-05-01

    Infantile colic is a self-limiting disorder of excessive infant crying or fussiness that peaks at 6 weeks of age and typically improves by 3 months of age. The etiology of infantile colic has yet to be definitively elucidated, but there is increasing research to support its relationship to migraine. The aims of this review are to present recent research investigating the connection between infantile colic and migraine. The importance of identifying this connection is useful in reducing invasive and potentially harmful investigations and to identify age appropriate pharmacologic interventions that would be safe in this population.

  20. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  1. Neurological complications of infantile osteopetrosis.

    PubMed

    Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L

    1977-11-01

    Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.

  2. A Survey of Infantile Gastroenteritis

    PubMed Central

    Ironside, Alastair G.; Tuxford, Ann F.; Heyworth, Barrie

    1970-01-01

    In 1967 we admitted 339 cases of infantile gastroenteritis; one-third of these were dehydrated, and in this group the commonest biochemical abnormality found was hypernatraemia, sometimes with metabolic acidosis. A higher incidence of dehydration was found in the patients who had received oral glucose fluids before admission. Enteropathic Escherichia coli were isolated from the faeces of 16% of the cases. Associated infections, especially of the respiratory tract, were common. Treatment was aimed at the restoration of fluid and electrolyte balance. Usually this was achieved with oral fluids, though intravenous fluids were used in the most severely dehydrated cases. Recovery was complete in 320 cases and a further 14 cases were discharged as carriers of enteropathic E. coli. There were five deaths (1·5%) in the series; three occurred immediately after admission. PMID:4913493

  3. Infantile haemangioma: a complicated disease.

    PubMed

    Qiu, Mingke; Qi, Xianqin; Dai, Yuxin; Wang, Shuqing; Quan, Zhiwei; Liu, Yingbin; Ou, Jingmin

    2015-06-01

    Infantile haemangiomas (IH) are common benign vascular tumors of childhood. They are characterised by rapid growth during the first year of life and slow regression that is usually completed by 7-10 years of age. The underlying mechanism of action of IH is aberrant angiogenesis and vasculogenesis, and involves the mammalian target of rapamycin pathway and vascular endothelial growth factor pathway. IH become a challenge if they are part of a syndrome, are located in certain areas of the body, or if complications develop. The beta-adrenergic receptor blocker propranolol is a promising new candidate for first-line systemic therapy. This review focuses on the clinical characteristics, pathogenesis and management of IH.

  4. A Formula for Early Infantile Autism.

    ERIC Educational Resources Information Center

    Roy, M. Aaron

    Offered is an explanation for the development of early infantile autism as defined by L. Kanner which incorporates the behavior of the child, the behavior of the parent, and a critical time period of development. Writings of Kanner on the characteristics of autistic children, parental characteristics, and etiology are reviewed. The formula…

  5. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  6. Low-dose propranolol for infantile haemangioma.

    PubMed

    Tan, Swee T; Itinteang, Tinte; Leadbitter, Philip

    2011-03-01

    In 2008, propranolol was serendipitously observed to cause accelerated involution of infantile haemangioma. However, the mechanism by which it causes this dramatic effect is unknown, the dosage empirical and the optimal duration of treatment unexplored. This study determines the minimal dosage and duration of propranolol treatment to achieve accelerated involution of problematic infantile haemangioma. Consecutive patients with problematic proliferating infantile haemangioma treated with propranolol were culled from our prospective vascular anomalies database. The patients were initially managed as inpatients and commenced on propranolol at 0.25 mg kg(-1) twice daily, and closely monitored. The dosage was increased to 0.5 mg kg(-1) twice daily after 24 h, if there was no cardiovascular or metabolic side effect. The dosage was increased further by 0.5 mg kg(-1) day(-1) until a visible effect was noticed or up to a maximum of 2 mg kg(-1) day(-1), and was maintained until the lesion had fully involuted or the child was 12-months old. A total of 15 patients aged 3 weeks to 8.5 months (mean, 11 weeks) underwent propranolol treatment for problematic proliferating infantile haemangioma, which threatened life (n=1) or vision (n=2) or nasal obstruction (n=3) and/or caused ulceration (n=6) and/or bleeding (n=2) and/or significant tissue distortion (n=12). The minimal dosage required to achieve accelerated involution was 1.5-2.0 mg kg(-1) day(-1). Rebound growth occurred in the first patient when the dose was withdrawn at 7.5 months of age requiring reinstitution of treatment. No rebound growth was observed in the remaining patients. No other complications were observed. Propranolol at 1.5-2.0 mg kg(-1) day(-1), administered in divided doses with gradual increase in the dose, is effective and safe for treating problematic proliferating infantile haemangioma in our cohort of patients. Treatment should be maintained until the lesion is completely involuted or the child is 12

  7. Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

    PubMed

    Avery, A A

    1999-07-01

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict.

  8. [Giant infantile hepatic hemangioma: which therapeutic options?].

    PubMed

    Gonçalves, Cristina; Lobo, Luisa; Anjos, Rui; Salgueiro, Carlos; Lopes, Ana Isabel

    2013-01-01

    Infantile hepatic hemangioma is the third most frequent liver tumor in children and the most common below 6 months of age. Therapeutic options depend on clinical manifestations and should be tailored on an individual patient basis. We present the case of a 4 year old boy with neonatal diagnosis of large vascularized liver tumor with imagiological criteria of infantile hepatic hemangioma. We highlight the occurrence of heart failure and Kasabach-Merrit syndrome (thrombocytopenia, anemia) that have spontaneously regressed. During follow up, sequential imaging (ultrasound with Doppler, magnetic resonance imaging, dynamic contrast enhancement computed tomography) confirmed the hypothesis of IHH, allowing vascular mapping of the lesion. From the first year on, we observed a favorable course with progressive tumor regression. In the present case, a conservative approach has been maintained, but the best therapeutic option remains unclear. We highlight the specific features of this case, discussing the most cost-effective approach.

  9. [Primary hepatic infantile hemangioendothelioma (author's transl)].

    PubMed

    Pollice, L; Pagliarulo, G

    1975-01-01

    Primary hepatic infantile hemangioendothelioma is a rare tumor, characterized by its appearance in early infancy as well as by the frequent association with various malformations and with similar angiomatous tumors of other tissues and organs. It may be single or multinodular and it is often complicated by severe peritoneal hemorrhage. Tow histologic types of this tumor are known: tipe 1 is sharply circumscribed and is considered similar to so called capillary hypertrophic hemangioma, while type 2, by showing aggressive, infiltrative and anaplastic features, is rather close to angiosarcoma. Clinical and pathological data concerning two cases of type 2 primary hepatic infantile hemangioendothelioma are reported. On the basis of experimental results and epidemiological data on hepatic angiosarcoma of adults, a possible etiopathogenetic relationship with maternal exposure during pregnancy to dangerous environmental factors is postulated.

  10. The hazards of honey: infantile botulism.

    PubMed

    Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth

    2010-09-29

    Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum-an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source-a jar of honey. The importance of food labelling as a public health message is highlighted.

  11. The "infantilization" of a cichlid fish.

    PubMed

    Shaw, E; Innes, K

    1980-03-01

    This paper reports a rather remarkable phenomenon, which we have termed "infantilization." Young acaras, 7 to 17 days postspawning age and normally freely swimming, will resume their nesting phase when placed with foster parents' brooding embryos or wrigglers. The foster parents do not eat these alien young when the young assume a behavior pattern similar to that of their own brood, namely, nest-bound and quiescent.

  12. Infantile Hemangioendothelioma of the Parotid Gland

    PubMed Central

    Chaubal, Rajas; Tavri, Om; Sawant, Atul; Singh, Chitrangada

    2017-01-01

    A 4-month-old infant presented with a painless swelling overlying the left angle of mandible. Ultrasound and magnetic resonance imaging (MRI) revealed a large lesion replacing the entire left parotid gland, with multiple enlarged vessels. Homogeneous enhancement of the lesion was seen on the postcontrast MRI scans. Based on the imaging features, a diagnosis of infantile hemangioendothelioma of the parotid gland was offered. This helped in avoiding any further invasive testing. PMID:28217408

  13. The infantile in the analytic relationship.

    PubMed

    Guignard, F

    1995-12-01

    The author examines the narcissistic and relational aspects of the preconscious functioning of the analytic couple in order to bring out the drive-related, developmental and structural elements of the infantile in their relationship. She considers that any disruption of the specific tone of an analysis indicates a change in the level of drive excitation, which is experienced unconsciously in the transference and countertransference as the loss of a significant internal object and gives rise to a representational deficiency. Where this is due to the impact of the infantile-in-the-patient on his own preconscious, the analyst suffers a blind spot. As long as he can desist from using 'blocking representations', the effect will be to repress the unrepresented wish and at the same time to create a framing and containing preform beneficial to the treatment. In the author's view, the analyst deals with his blind spot by a 'work of the negative' à la André Green, through denial of his fantasy of seduction by the infantile omnipotence of the analysand. This model can also be used to investigate the termination criteria of the analyst's own analysis and the economic situation of repression in the psychoanalyst's work.

  14. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae.

  15. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  16. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  17. Part Two: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

    This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

  18. Factors associated with infantile hypertrophic pyloric stenosis.

    PubMed

    Jedd, M B; Melton, L J; Griffin, M R; Kaufman, B; Hoffman, A D; Broughton, D; O'Brien, P C

    1988-03-01

    We examined perinatal factors in relation to the rise in incidence of infantile hypertrophic pyloric stenosis among children in Olmsted County, Minnesota, during the period from 1950 through 1984. Primogeniture was associated with male infants but not female infants; some factor related to primogeniture, such as breast-feeding, may be etiologically important. Our data did not support a role for maternal disease, use of doxylamine succinate-pyridoxide hydrochloride (Bendectin), or an infectious process. Further study should be directed toward environmental factors associated with primogeniture.

  19. A case of infantile star anise toxicity.

    PubMed

    Madden, Gregory Russell; Schmitz, Kristine Held; Fullerton, Katherine

    2012-03-01

    Chinese star anise (Illicium verum) is a popular herbal remedy for infantile colic. Contamination with a related species of Japanese star anise (Illicium anisatum) has been related to cases of toxicity in infants. We report the case of a 3-month-old infant girl who presented to the emergency department with signs and symptoms of toxicity after recent star anise ingestion. Her presentation is consistent with other reports of toxicity that include particular gastrointestinal and neurological findings. A discussion of the clinical aspects of star anise toxicity, differential diagnosis, and management follows.

  20. Evidence-based guideline update: Medical treatment of infantile spasms

    PubMed Central

    Go, C.Y.; Mackay, M.T.; Weiss, S.K.; Stephens, D.; Adams-Webber, T.; Ashwal, S.; Snead, O.C.

    2012-01-01

    Objective: To update the 2004 American Academy of Neurology/Child Neurology Society practice parameter on treatment of infantile spasms in children. Methods: MEDLINE and EMBASE were searched from 2002 to 2011 and searches of reference lists of retrieved articles were performed. Sixty-eight articles were selected for detailed review; 26 were included in the analysis. Recommendations were based on a 4-tiered classification scheme combining pre-2002 evidence and more recent evidence. Results: There is insufficient evidence to determine whether other forms of corticosteroids are as effective as adrenocorticotropic hormone (ACTH) for short-term treatment of infantile spasms. However, low-dose ACTH is probably as effective as high-dose ACTH. ACTH is more effective than vigabatrin (VGB) for short-term treatment of children with infantile spasms (excluding those with tuberous sclerosis complex). There is insufficient evidence to show that other agents and combination therapy are effective for short-term treatment of infantile spasms. Short lag time to treatment leads to better long-term developmental outcome. Successful short-term treatment of cryptogenic infantile spasms with ACTH or prednisolone leads to better long-term developmental outcome than treatment with VGB. Recommendations: Low-dose ACTH should be considered for treatment of infantile spasms. ACTH or VGB may be useful for short-term treatment of infantile spasms, with ACTH considered preferentially over VGB. Hormonal therapy (ACTH or prednisolone) may be considered for use in preference to VGB in infants with cryptogenic infantile spasms, to possibly improve developmental outcome. A shorter lag time to treatment of infantile spasms with either hormonal therapy or VGB possibly improves long-term developmental outcomes. PMID:22689735

  1. Infantile esotropia: risk factors associated with reoperation

    PubMed Central

    Magli, Adriano; Rombetto, Luca; Matarazzo, Francesco; Carelli, Roberta

    2016-01-01

    The aim of this study was to identify clinical and demographic factors associated with misalignment after first surgery performed on children affected by infantile esotropia to evaluate the reoperation rate. A retrospective study was carried out, analyzing data from 525 children who underwent bilateral medial recti recession, bilateral lateral recti resection, and inferior oblique recession and anteroposition by the same surgeon (AM). Postoperative evaluation included assessment of motor alignment at approximately 3 months, 6 months, 1 year, and 5 years. Statistical analysis was performed with a logistical regression model in which the dependent variable was the presence/absence of reoperation. We found that late surgery (after 3 years of age) and a family history of strabismus are associated with a higher risk of reoperation, while some clinical factors, including some classically associated with worst motor outcome as preoperative angle, dissociated vertical deviation, and amblyopia, did not influence the incidence of reoperation in infantile esotropia. Male patients and patients with hyperopia in preoperative examinations have a significantly decreased reoperation rate. PMID:27799735

  2. Evidence-Based Medicine in the Treatment of Infantile Hemangiomas.

    PubMed

    Keller, Robert G; Patel, Krishna G

    2015-08-01

    Over the past decade, the treatment of infantile hemangiomas has undergone dramatic breakthroughs. This review critically evaluates the latest literature that supports the myriad treatment options for infantile hemangiomas. It chronicles the fading role of steroid therapy and evolution of propranolol use as the major treatment modality. Although propranolol is helping this disease become more of a medical disease and less of a surgical dilemma, the report also reveals a continued search to find nonsystemic treatment options. In summary, this is an evidence-based medicine review for the treatment of infantile hemangiomas.

  3. Infantile botulism caused by Clostridium butyricum type E toxin.

    PubMed

    Abe, Yuichi; Negasawa, Tetsuro; Monma, Chie; Oka, Akira

    2008-01-01

    The case of a 9-month-old boy with infantile botulism caused by Clostridium butyricum type E toxin is reported. Because infantile botulism is rare in Japan, it was difficult to diagnose it at an early stage. Electrophysiologic findings were useful for the diagnosis, and were characterized by incremental responses (waxing) to short intervals and rapid repetitive nerve stimulation. A bioassay for botulism in mice indicated that the patient had botulism due to type E or F botulinum toxin. C. butyricum type E was isolated from his feces, confirming the diagnosis. This is the first known case of infantile botulism due to C. butyricum type E toxin in Japan.

  4. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePlus

    ... infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary ... the first six months of life. The abnormal eye movements may worsen when an affected person is feeling ...

  5. Infantile or Malignant Osteopetrosis: Case Report of Two Siblings

    PubMed Central

    Rao P., Tarakeswara; V., Sunita; T.P., Gandhi; Harsha, Sri

    2013-01-01

    Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy respiration, progressive blindness and developmental delay. PMID:24086906

  6. Cor pulmonale in a case of infantile Gaucher's disease.

    PubMed

    Patra, Soumya; Chatterjee, Sayan; Singhla, Shilpi; Patra, Bijoy; Maheswari, Anu; Seth, Anju

    2011-04-01

    Infantile Gaucher's disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gaucher's disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typical of interstitial and airspace disease. Cor pulmonale in this patient was a result of severe pulmonary hypertension.

  7. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  8. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma.

    PubMed

    Nip, Siu Ying Angel; Hon, Kam Lun; Leung, Wing Kwan Alex; Leung, Alexander K C; Choi, Paul C L

    2016-01-01

    Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments.

  9. Infantile Periocular Haemangioma: Optimising the Therapeutic Response.

    PubMed

    Taylor, Robert H

    2016-06-01

    Oral propranolol is now established as the first-line treatment for infantile haemangiomas, and used in up to 20 % of all cases. Propranolol use in infants is most commonly instigated in a controlled environment to monitor for potential serious adverse events such as hypoglycaemia and hypotension. Two test doses are recommended, the first one of 300 μg/kg followed by 2-hourly monitoring. On the subsequent day, a further dose of 650 μg/kg is administered with the same monitoring. A dose of 2 mg/kg divided into three is started from the next day. Parents/carers need to be warned of common adverse effects, of which disturbed sleep is the commonest. Treatment is recommended for up to a year to avoid rebound growth and the need to restart the treatment.

  10. Multifocal infantile haemangioma: a diagnostic challenge.

    PubMed

    Torres, Erica; Rosa, João; Leaute-Labreze, Christine; Soares-de-Almeida, Luis

    2016-06-17

    We describe a case of a newborn who presented with multiple dark red macules that developed into red-to-purple papules associated with thrombocytopaenia. Abdominal ultrasound showed multiple hyperechoic papules and nodules. Endothelial cells from a skin biopsy stained positively for endothelial cell glucose transporter 1, which was consistent with a diagnosis of multifocal infantile haemangioma. At the age of 2 months, the child developed intestinal bleeding and anaemia. Upper and lower endoscopies showed no intestinal haemangiomas. Oral treatment with propranolol (3 mg/kg/day) resulted in complete involution of the skin and hepatic haemangiomas over the period of treatment, which lasted until the child was aged 15 months. This is a rare case of multifocal cutaneous haemangioma with hepatic and probable intestinal involvement, successfully treated with propranolol.

  11. Vitamin D metabolites in idiopathic infantile hypercalcaemia.

    PubMed Central

    Martin, N D; Snodgrass, G J; Cohen, R D; Porteous, C E; Coldwell, R D; Trafford, D J; Makin, H L

    1985-01-01

    Metabolites of vitamin D were measured in plasma from 83 patients with idiopathic infantile hypercalcaemia syndrome who were mentally handicapped but had normal calcium values at the time of the study. No significant difference was detected in the mean plasma concentrations of 25-hydroxyvitamin D2, 1,25-dihydroxyvitamin D, 24,25-dihydroxyvitamin D3, or 25,26-dihydroxyvitamin D3 between patients and age matched controls. The mean plasma concentration of 25-hydroxyvitamin D3 was significantly lower in patients than controls but this may be a secondary phenomenon related to less sunlight exposure. In addition, two hypercalcaemic patients with this syndrome were studied during the first year of life, and were found to have normal concentrations of vitamin D metabolites. These findings do not support a role for abnormal vitamin D metabolism in the pathogenesis of this syndrome. PMID:3879160

  12. A genetic and biologic classification of infantile spasms

    PubMed Central

    Paciorkowski, Alex R.; Thio, Liu Lin; Dobyns, William B.

    2011-01-01

    Infantile spasms are an age-dependent epilepsy that are highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems have focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with the recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much more likely to have infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children with these genetic associations with infantile spasms also have phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. We therefore also propose a biologic classification of the genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on that data. The two best described pathways of pathogenesis are abnormalities in the gene regulatory network of GABAergic forebrain development, and abnormalities in molecules expressed at the synapse. We intend for these genetic and biologic classifications to be flexible, and hope that they will encourage much needed progress in syndrome recognition, clinical genetic testing, and ultimately the development of new therapies that target specific pathways of pathogenesis. PMID:22114996

  13. [Propranolol therapy for periocular and orbital infantile haemangiomas].

    PubMed

    Sterker, I; Tegetmeyer, H; Sorge, I; Weißer, M; Böhm, R

    2014-10-01

    In spite of the self-limiting natural course of infantile haemangiomas of the eyelids and orbit, the effects of amblyopia, compression of the optic nerve, and impairment of the aesthetic appearance may develop. Since the serendipitous discovery of the effects of propranolol, a non-selective beta-blocker, on infantile haemangioma in 2008, it has largely replaced the former standard treatments with corticosteroids, laser or surgical procedures. This review discusses the pathogenesis, classification, indication for treatment, and treatment options for infantile haemangiomas. In addition, the results of patients with infantile haemangiomas of the eyelids and orbit treated with systemic propranolol are shown. With additional confirmation of data, including a positive effect-risk-analysis, propranolol will potentially replace high-dose corticosteroids and surgery in the treatment of infantile haemangiomas in the eyelids and orbit. Further clinical studies are necessary to optimise the dosage, treatment period, and application modalities (oral or topical). In the future, propranolol accompanied with paediatric-cardiological monitoring should emerge as the first-line therapy for problematic infantile haemangiomas.

  14. Assessment of maternal knowledge about infantile colic in Saudi Arabia

    PubMed Central

    Al-Shehri, Hassan; Al-Mogheer, Bader H; Al-Sawyan, Talal H; Abualalaa, Abdulaziz Badr; Jarrah, Omar Ahmed; Jabari, Mosleh; Al-Faris, Abdullah

    2016-01-01

    Introduction The infantile colic is a difficult experience met by parents in the first few months of an infant’s life. This may lead to increased discomfort for infants as well as psychological distress for mothers. This study aimed at assessing the baseline knowledge of mothers in Saudi Arabia about infantile colic mainly in regard to the etiology and management. Methods In this cross-sectional study, a questionnaire was distributed among mothers in six primary healthcare centers (PHCC) in Riyadh, Saudi Arabia, during their visit for immunization clinics in 2016. The questionnaire consisted of two domains for determining the sociodemography characteristics and the maternal knowledge of participants about infantile colic. SPSS version 20 and chi-square test were used for data analysis. Results A total of 230 mothers completed the survey questionnaire. Of these, 208 participants were Saudis. The majority of the participants were in the age group of 18–29 years (42.6%). The average age of the infants in this study was found to be 5.75±4.26 months. Eighty percent replied that they did not have any previous knowledge of infantile colic; 42.6% mothers believed that the causes of infantile colic were unclear and might involve several factors; 36% of the participants perceived milk allergy as the attributing cause for infantile colic. The source of knowledge about infantile colic was mainly through experiences of dealing with previous siblings who have the same issue (34.4%); 27.4% of mothers prefer the use of herbal medicines to treat this condition. Conclusions It is recommended that health education needs to be provided to mothers at outpatient clinics during their antenatal hospital visits. This reduces the discomfort of infant and distress in mothers. PMID:28163842

  15. Congenitally Impaired Disparity Vergence in Children With Infantile Esotropia

    PubMed Central

    Kelly, Krista R.; Felius, Joost; Ramachandran, Santoshi; John, Blesson A.; Jost, Reed M.; Birch, Eileen E.

    2016-01-01

    Purpose We examined whether congenital impairment of disparity vergence in infantile esotropia (ET) exists in children with short duration ET (≤3 months) compared with long-duration ET and healthy controls. A short duration of misalignment would allow for a substantial amount of balanced binocular input during the critical period of binocular disparity development. Methods A total of 19 children aged 5 to 12 years and treated for infantile ET with a short (≤3 months; n = 10) or long (≥5 months; n = 9) duration of constant misalignment before alignment were enrolled. A total of 22 healthy control children were enrolled as a comparison group. Eye movements during disparity vergence and accommodative vergence were recorded using an EyeLink 1000 binocular eye tracker. Mean response gain was compared between and within groups to determine the effect of duration of misalignment and viewing condition. Results Compared with controls, children with short (P = 0.002) and long (P < 0.001) duration infantile ET had reduced response gains for disparity vergence, but not for accommodative vergence (P = 0.19). Conclusions Regardless of duration of misalignment, children with infantile ET had reduced disparity vergence, consistent with a congenital impairment of disparity vergence in infantile ET. Although early correction of misalignment increases the likelihood that some level of binocular disparity sensitivity will be present, normal levels may never be achieved. PMID:27159445

  16. [Infantile anorexia: from birth to childhood].

    PubMed

    Poinso, F; Viellard, M; Dafonseca, D; Sarles, J

    2006-05-01

    Young child's anorexia (0-4 years) may have organic or psychological origin, when parents-child relationships are concerned. The most complex and earliest forms often have unspecified aetiology. Psychopathological classifications, which emphasize the mother-child relationships, are essential reference marks. But there is now a consensus in the definitions: the diagnosis of infantile anorexia requires criteria of acute or chronic malnutrition. We mainly distinguish anorexia by early disorder of homeostasis, anorexia resulting from serious disorder of attachment, anorexia by disorder of mother-child interactions, and finally early and complex anorexia, mixing an organic vulnerability and a bonding trouble, which can be secondary. Treatments differ according to the selected aetiology. Even if the origin is not mainly the fact of a relational mother-child dysfunction, parents-child's relations require a support to avoid aggravation by interactive vicious circles (force feeding). More than other diseases of early childhood, feeding disorders require a good knowledge of the working hypotheses both in the field of the paediatrics and the child psychiatry.

  17. When to stop propranolol for infantile hemangioma.

    PubMed

    Chang, Lei; Gu, Yifei; Yu, Zhang; Ying, Hanru; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Lin, Xiaoxi

    2017-02-22

    There is no definitive conclusion regarding the optimal timing for terminating propranolol treatment for infantile hemangioma (IH). A total of 149 patients who underwent detailed color Doppler ultrasound examination were included in this study. The characteristics and propranolol treatment of all patients were summarized and analyzed. Patients were divided into two groups according to the lesion regression rate. Among the 149 patients, 38 were assigned to the complete regression group, and 111 were assigned to the partial regression group. The age at which propranolol treatment started, duration of follow-up after treatment discontinuation and rate of adverse events were not significantly different between the two groups. The duration of oral propranolol treatment was shorter in the complete regression group. The age at which propranolol was terminated was younger in the complete regression group, and this group had a lower recurrence rate. Propranolol is safe and effective for the treatment of IHs that require intervention, but it should be stopped at an appropriate time, which is determined primarily by the lesion regression rate after propranolol treatment. Ultrasound is helpful in determining when to stop propranolol for IH.

  18. When to stop propranolol for infantile hemangioma

    PubMed Central

    Chang, Lei; Gu, Yifei; Yu, Zhang; Ying, Hanru; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Lin, Xiaoxi

    2017-01-01

    There is no definitive conclusion regarding the optimal timing for terminating propranolol treatment for infantile hemangioma (IH). A total of 149 patients who underwent detailed color Doppler ultrasound examination were included in this study. The characteristics and propranolol treatment of all patients were summarized and analyzed. Patients were divided into two groups according to the lesion regression rate. Among the 149 patients, 38 were assigned to the complete regression group, and 111 were assigned to the partial regression group. The age at which propranolol treatment started, duration of follow-up after treatment discontinuation and rate of adverse events were not significantly different between the two groups. The duration of oral propranolol treatment was shorter in the complete regression group. The age at which propranolol was terminated was younger in the complete regression group, and this group had a lower recurrence rate. Propranolol is safe and effective for the treatment of IHs that require intervention, but it should be stopped at an appropriate time, which is determined primarily by the lesion regression rate after propranolol treatment. Ultrasound is helpful in determining when to stop propranolol for IH. PMID:28225076

  19. Malassezia furfur in infantile seborrheic dermatitis.

    PubMed

    Wananukul, Siriwan; Chindamporn, Ariya; Yumyourn, Poomjit; Payungporn, Sunchai; Samathi, Chanchuree; Poovorawan, Yong

    2005-01-01

    Our objective was to study both incidence and various strains of Malassezia in infantile seborrheic dermatitis (ISD). Sixty infants between 2 weeks and 2 years old with clinical diagnosis of ISD at the Department of Pediatrics, King Chulalongkorn Memorial Hospital from May 2002 to April 2003 were recruited. Malassezia spp. were isolated from cultured skin samples of the patients, genomic DNA was extracted and the ITS1 rDNA region was amplified. The PCR product was examined by agarose gel electrophoresis and DNA sequences were determined. The ITS1 sequences were also subjected to phylogenetic analysis and species identification. ISD is most commonly found in infants below the age of 2 months (64%), followed by those between 2 and 4 months (28%) old. Cultures yielded yeast-like colonies in 15 specimens. PCR yielded 200-bp products (Candida) in 3 patients and 300-bp products (Malassezia furfur) in 12 patients (18%). Sugar fermentation using API 20C aux performed on the three 200-bp PCR products yielded Candida species. M. furfur was the only Malassezia recovered from skin scrapings of children with ISD.

  20. Biomarkers: important clues to the pathogenesis of infantile haemangioma and their clinical significance.

    PubMed

    Jia, Jun; Zhao, Yi Fang

    2010-01-01

    Infantile haemangioma is the most common tumour of infancy, yet the pathogensis of this lesion remains unknown and the predictable life cycle is poorly understood. Though much new information on infantile haemangioma has emerged over the past decade, researchers continue to debate the fundamental features; including cells of origin, nonrandom distribution, and mechanisms regulating the sometimes explosive growth and slow involution. The development of biomarkers has shed light on the pathogenesis and management of infantile haemangioma. Several useful biomarkers and their suggestions as to the aetiology of infantile haemangioma are reviewed. In addition, the application in clinical diagnosis and choice of treatment methods of infantile haemangioma is summarised.

  1. Effect of captopril on infantile haemangiomas: a retrospective case series.

    PubMed

    Christou, Elizabeth M; Wargon, Orli

    2012-08-01

    The mechanism of action of beta adrenergic blockers in the involution of infantile haemangioma (IH) remains unclear. It has been proposed that the renin-angiotensin pathway may play a role. We present a retrospective case series of 17 patients with IH who were treated with oral corticosteroid therapy and developed hypertension requiring treatment with the angiotensin converting enzyme inhibitor, captopril. All patients, with written documentation, demonstrated an improvement in their lesion at the start of oral corticosteroid therapy (n = 14). Captopril alone did not sustain the corticosteroid-induced involution with a documented worsening of infantile haemangioma in seven out of 12 patients (58%).

  2. Hematopoietic stem cell transplantation for infantile osteopetrosis

    PubMed Central

    Fasth, Anders L.; Le Rademacher, Jennifer; He, Wensheng; Boelens, Jaap Jan; Horwitz, Edwin M.; Al-Seraihy, Amal; Ayas, Mouhab; Bonfim, Carmem M.; Boulad, Farid; Lund, Troy; Buchbinder, David K.; Kapoor, Neena; O’Brien, Tracey A.; Perez, Miguel A. Diaz; Veys, Paul A.; Eapen, Mary

    2015-01-01

    We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed. PMID:26012570

  3. [Infantile hemangioma and propranolol: a therapeutic "revolution". Literature review].

    PubMed

    Yilmaz, L; Dangoisse, C; Semaille, P

    2013-01-01

    Infantile hemangioma (IH) is the most common benign vascular tumour affecting children. Most infantile hemangiomas are self-limiting, but some require specific treatment. Propranolol has been proposed for the treatment of infantile hemangiomas. The aim of this study is to explore the mechanism of action of propranolol for the treatment of infantile hemangiomas and to demonstrate its safety and efficacy through a review of the literature. The non cardioselective bêta-blocker propranolol has been used in a pediatric setting for 40 years and, since 2008, has a new indication. A clearly significant improvement has been observed in the condition of children with complicated IH (10%) treated with propranolol. This new indication has been widely described in the international literature. Various explanations have been put forward for the mechanism of action including a vasoconstrictor, antiangiogenic and apoptotic effect of propranolol on the different cells making up an IH. Overall tolerance is good and the efficacy markedly superior to that of any other treatments used for this purpose. In conclusion, with its good tolerance profile and superior efficacy versus all the other available therapies, propranolol can be considered to be a first-line treatment for complicated IH.

  4. Possible association of Kingella kingae with infantile spondylodiscitis.

    PubMed

    Ceroni, Dimitri; Belaieff, Wilson; Kanavaki, Akatarina; Della Llana, Rebecca Anderson; Lascombes, Pierre; Dubois-Ferriere, Victor; Dayer, Romain

    2013-11-01

    The course of the spondylodiscitis' infantile form is characterized by a mild-to-moderate clinical and biologic inflammatory response. Unfortunately, blood and disk/vertebral aspiration cultures show a high percentage of negative results. However, detecting Kingella kingae DNA in the oropharynx provided reasonable suspicion, to our opinion, that this microorganism is responsible for the spondylodiscitis.

  5. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  6. Infantile colic: maternal smoking as potential risk factor

    PubMed Central

    Reijneveld, S.; Brugman, E.; Hirasing, R.

    2000-01-01

    The association of maternal smoking and type of feeding with colic was assessed in 3345 children aged 1-6 months (96% response). The prevalence of colic was twofold higher among infants of smoking mothers, but less among breastfed infants. Maternal smoking as a potential risk factor for infantile crying needs further study.

 PMID:10999861

  7. Infantile tibia vara: correction of recurrent varus deformity following epiphyseolysis.

    PubMed

    Gary, Joshua; Richards, B Stephens

    2008-05-01

    Infantile tibia vara (infantile Blount's disease) is a condition in which progressive varus of the knee develops due to diminished physeal growth of the medial aspect of the proximal tibia. A 6-year-old boy with severe bilateral infantile tibia vara (Langenskiold stage V) underwent operative correction of his deformities. Surgery consisted of epiphyseolyses of the medial proximal tibiae and valgus-producing corrective tibial osteotomies. Nearly 5 years after symmetric growth, he again developed progressive varus involving his left knee. Usually, a repeat proximal tibial osteotomy is required along with consideration for completion of epiphyseodesis. In this case report, a simpler approach using staples was taken to successfully regain correction in a patient with recurrent deformity who was treated previously by a combination of epiphyseolysis and proximal tibial osteotomy. Stapling of the lateral aspect of the physis allowed the limited remaining growth potential within the abnormal medial physeal region to correct the angular deformity. A small overcorrection into valgus corrected after subsequent removal of the staple. At 14 years, with clinical and radiologic alignment normal, bilateral proximal tibial epiphysiodeses were performed. The patient returned to playing football at a high school level and had no functional limitations. To our knowledge, this is the first report of growth modulation (physeal stapling) resulting in successful correction of recurring genu varum in a knee that had previously undergone epiphyseolysis of the medial proximal tibial physis in advanced infantile tibia vara.

  8. Infantile Autism and the Temporal Lobe of the Brain.

    ERIC Educational Resources Information Center

    Hetzler, Bruce E.; Griffin, Judith L.

    1981-01-01

    Studies are reviewed that support the hypothesis that infantile autism results from a neuropathology of the temporal lobes of the brain. It is concluded that the main autistic symptoms are most consistent with a neurological model involving bilateral dysfunction of the temporal lobes. (Author)

  9. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  10. Genetics Home Reference: X-linked infantile spasm syndrome

    MedlinePlus

    ... A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. Epub 2006 Jun 23. Review. Citation on PubMed Kossoff ... JL. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile ...

  11. Infantile amnesia reflects a developmental critical period for hippocampal learning

    PubMed Central

    Travaglia, Alessio; Bisaz, Reto; Sweet, Eric S.; Blitzer, Robert D.; Alberini, Cristina M.

    2016-01-01

    Episodic memories formed during the first postnatal period are rapidly forgotten, a phenomenon known as infantile amnesia. In spite of this memory loss, early experiences influence adult behavior, raising the question of which mechanisms underlie infantile memories and amnesia. Here we show that in rats an experience learned during the infantile amnesia period is stored as a latent memory trace for a long time; indeed, a later reminder reinstates a robust, context-specific and long-lasting memory. The formation and storage of this latent memory requires the hippocampus, follows a sharp temporal boundary, and occurs through mechanisms typical of developmental critical periods, including brain-derived-neurotrophic-factor (BDNF)- and metabotropic-glutamate-receptor-5 (mGluR5)-dependent expression switch of the N-methyl-D-aspartate receptor subunits 2B-2A. BDNF or mGlur5 activation after training rescues the infantile amnesia. Thus, early episodic memories are not lost, but remain stored long-term. These data suggest that the hippocampus undergoes a developmental critical period to become functionally competent. PMID:27428652

  12. Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

    PubMed

    Horii, Kimberly A; Drolet, Beth A; Frieden, Ilona J; Baselga, Eulalia; Chamlin, Sarah L; Haggstrom, Anita N; Holland, Kristen E; Mancini, Anthony J; McCuaig, Catherine C; Metry, Denise W; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Garzon, Maria C

    2011-01-01

    Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment.

  13. [Keeping dogs indoor aggravates infantile atopic dermatitis].

    PubMed

    Endo, K; Hizawa, T; Fukuzumi, T; Kataoka, Y

    1999-12-01

    We had a two-month-old girl with severe dermatitis since birth. Her serum RAST to HD, Df and Dp were 1.06, 0.03 and 0.01 Ua/ml respectively. A Yorkshire terrier were kept at her mother's parents' home where the patient had lived for a month since birth. Her eczema, which became markedly aggravated whenever she visited there, improved after the elimination of the dog. We investigated the relationship between keeping dogs and infantile atopic dermatitis. We studied 368 patients under the age of two years (211 boys and 157 girls). Skin symptoms were graded globally mild, moderate or severe. Total serum IgE and specific antibody titer to dog dander were measured. We asked them whether they kept dogs and specifically, where they kept dogs, outdoor, indoor, in their own house, or in their grandparents' house. 197 patients had no contact with dogs, 90 patients kept dogs outdoor and 81 patients did indoor. The positive rate of RAST (> or = 0.7 Ua/ml) to dog dander was 6.1%, 17.8% and 46.9% respectively in these three groups. There were strong statistical differences between three groups. On the other hand, among the 81 patients who kept indoor, the RAST positive rates were almost same regarding where the dogs were kept, in their own house or their grandparents' house. Interestingly this difference happens only with patients under the age of 3 months. Patients older than 4 months showed no significant differences in the positive RAST rates, whether they kept dogs indoor or outdoor. This suggests the sensitization occurs before the age of 3 months. Speaking of symptoms, patients who kept dogs indoor showed significantly more severe symptoms than patients who had no contact with dogs and patients who kept dogs outdoor. There was no significant difference between the symptoms of patients who had no contact with dogs and those of patients who kept dogs outdoor. This implies the patient's symptom will improve only by moving the dog out of the house.

  14. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  15. [Alterations in two enzymes: superoxide dismutase and glutathion peroxidase in developmental infantile psychosis (infantile autism) (author's transl)].

    PubMed

    Golse, B; Debray-Ritzen, P; Durosay, P; Puget, K; Michelson, A M

    1978-11-01

    After they gave a classification of the different circumstances under which the infantile autism can exist, the authors expose the data of their researches on the intermediate metabolism of oxygen of those children. Superoxyde dismutase I and glutathion peroxydase activities seem to be abnormal in the erythrocytes whereas only superoxyde dismutase I activity appears to be abnormal in the platelets.

  16. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant

    PubMed Central

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-01-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma. PMID:27468364

  17. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

    PubMed

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-07-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

  18. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men.

  19. Osteomyelitis of Maxilla in Infantile With Periorbital Cellulitis

    PubMed Central

    Feng, Zhiqiang; Chen, Xufeng; Cao, Fengdi; Lai, Renfa; Lin, Qiang

    2015-01-01

    Abstract Infantile osteomyelitis (IO) is an uncommon and life-threatening disease that can be misdiagnosed. Early diagnosis and treatment can reduce the incidence of sequel. In this case report, we present a 25-day-old male infant with apparent edema in the entire left periorbital region. Intraorally, the edema occurred in the mucosa of the upper left alveolar region, and 2 draining fistulas with exuded yellow-white pus were present in the left alveolar region. The patient received constant monitoring after admission, and was diagnosed as IO of the maxilla with periorbital cellulitis and sepsis. He also received incision and drainage and anti-inflammatory treatment. After discharge, the patient was followed up for 3 months by phone call, but no recurrence of symptoms was found. Infantile osteomyelitis is rare in clinic. This case report reminds us of the significance of IO and provides some implications on its diagnosis and treatment. PMID:26448016

  20. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk.

  1. Alpha 1-antitrypsin deficiency and infantile liver disease.

    PubMed Central

    McPhie, J L; Binnie, S; Brunt, P W

    1976-01-01

    Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. Review of 61 biopsies of liver from children and adolescents provided a further 3 cases. It is prudent to exclude this metabolic defect in children with a history of "neonatal hepatitis". Images FIG. 1 FIG. 2 PMID:1085610

  2. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Diniz, Gulden; Olukman, Ozgur; Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  3. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

    SciTech Connect

    Sharp, J.; Wheeler, R.B.; Jaervelae, I.

    1995-06-05

    The neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders with an autosomal-recessive pattern of inheritance. There are 3 main categories of childhood NCL, namely, infantile, late-infantile, and juvenile NCL. These can be distinguished on the basis of age of onset, clinical course, and histopathology. A number of variant forms of NCL have also been mapped to chromosome areas 1p32 and 16p12, respectively. The gene for late-infantile NCL (LINCL), CLN2, has been excluded from both these loci, but its location is as yet unknown. Recently, CLN5, the gene for the Finnish variant form of LINCL, was mapped to 13q21.1-32. Using the 3 microsatellite markers which were most tightly linked to CLN5, we have excluded CLN2 from this region using a subset of 17 families. Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 6 refs., 1 fig., 1 tab.

  4. Acupuncture in Practice: Investigating Acupuncturists' Approach to Treating Infantile Colic

    PubMed Central

    2013-01-01

    Infantile colic is common, but no safe and effective conventional treatment exists. The use of acupuncture has increased despite weak evidence. This practitioner survey explores and discusses how infantile colic is regarded and treated in Traditional Chinese Medicine (TCM). The study is based on personal communication with 24 acupuncturists from nine countries. These acupuncturists specialize in pediatric acupuncture and represent different styles of acupuncture. Their experiences are discussed and related to relevant books and articles. Informants claimed good results when treating infants with colic. The TCM patterns commonly described by informants matched the textbooks to a great extent. The most common syndromes were “stagnation of food” and “Spleen Qi Xu.” Regarding treatment, some informants followed the teachers' and the textbook authors' advice on differentiated treatment according to syndrome. The points used most often were LI4, ST36, and Sifeng. Other informants treated all infants alike in one single point, LI4. The results demonstrate the diversity of TCM. The use of acupuncture for infantile colic presents an interesting option, but further research is needed in order to optimize the effects and protect infants from unnecessary or less effective treatment. PMID:24324513

  5. Infantile acne: a retrospective study of 16 cases.

    PubMed

    Hello, Muriel; Prey, Sorilla; Léauté-Labrèze, Christine; Khammari, Amir; Dreno, Brigitte; Stalder, Jean-François; Barbarot, Sébastien

    2008-01-01

    Infantile acne is a rare and poorly understood disorder. The objective of this study was to improve our knowledge about the epidemiology and clinical course of infantile acne, and evaluate approaches to treatment. This two-center retrospective study covered the period between 1985 and 2007. Inclusion criteria were: (i) age less than 24 months when lesions appeared; (ii) presence of both inflammatory and noninflammatory lesions; (iii) persistence of lesions for at least 2 months. The data were drawn from clinical and photographic records, followed by administration of a telephone questionnaire to parents. It was proposed that each case be reviewed on the basis of the child's appearance and score on an acne scar clinical grading scale. Sixteen children were included. Nine had a family history of severe adolescent acne. The average duration of disease was 22 months. Two patients had been effectively treated with oral isotretinoin. More than half of the patients exhibited scars. We re-examined five children (average acne scar clinical grading scale score = 12/540). On the basis of the frequency of scarring, and the severity and average duration of lesions, the use of oral retinoids in severe infantile acne warrants evaluation.

  6. Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma.

    PubMed

    Munabi, Naikhoba C O; Tan, Qian Kun; Garzon, Maria C; Behr, Gerald G; Shawber, Carrie J; Wu, June K

    2015-01-01

    Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence.

  7. Cardiac Autonomic Dysfunction in Patients With Infantile Spasm and the Effect of Adrenocorticotropic Hormone Treatment.

    PubMed

    Gencpinar, Pinar; Kocabas, Abdullah; Duman, Özgür; Dündar, Nihal Olgaç; Haspolat, Senay; Kardelen, Fırat

    2016-02-01

    Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment. Heart rate variability analysis found lower heart rate variability parameters in patients with infantile spasm at the onset of the syndrome, prior to treatment with ACTH. The time domain parameters of heart rate variability values showed a statistically significant increase following ACTH treatment. Our data suggest that patients with infantile spasm exhibit lower heart rate variability parameters, and the treatment of spasms with ACTH and B6 together diminished the autonomic dysfunction in our cohort.

  8. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

    PubMed Central

    Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

    2016-01-01

    Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

  9. Eruption hematoma as a possible oral sign of infantile scurvy.

    PubMed

    Adewumi, Abi O; Ashoor, Isa F; Soares, Flavio M; Guelmann, Marcio; Novak, Donald A

    2010-01-01

    Scurvy, vitamin C deficiency, is uncommon in industrialized societies today. Although supplementation of food with vitamin C has diminished its incidence, scurvy continues to occur in specific economically and nutritionally disadvantaged populations. The purpose of this report was to describe the case of infantile scurvy in a 20-month-old male with multisystem involvement including significant oral manifestations. Following an extensive initial evaluation, the multidisciplinary approach to diagnosis and management is discussed. This case demonstrates the need for heightened awareness of severe and multiplefood allergies in children and highlights disease conditions caused by nutritional deficiencies in this population.

  10. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

  11. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  12. Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma

    PubMed Central

    Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

    2016-01-01

    We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review. PMID:27761184

  13. Familial infantile cortical hyperostosis in a large Canadian family.

    PubMed Central

    Maclachlan, A. K.; Gerrard, J. W.; Houston, C. S.; Ives, E. J.

    1984-01-01

    Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity. Images Fig. 2 Fig. 3 PMID:6370402

  14. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  15. Distinct reovirus-like agents associated with acute infantile gastroenteritis.

    PubMed Central

    Espejo, R T; Calderon, E; Gonzalez, N

    1977-01-01

    Human reovirus-like particles were found by electron microscopy in the stools of 25% of 71 infants and young children hospitalized with acute gastroenteritis in Mexico between December 1976 and April 1977. The virus was also identified by the electrophoresis patterns of its ribonucleic acid upon disruption of partially purified particles. This technique is as reliable as electron microscopy but less laborious, and could become a routine diagnostic procedure. The electrophoretic patterns of viral ribonucleic acid from different cases suggest that there are at least two different reovirus-like agents associated with infantile gastroenteritis. Images PMID:411805

  16. Unusual imaging presentation of infantile atypical Kawasaki disease.

    PubMed

    Kumar, Nishith; Mittal, Mahesh Kumar; Sinha, Mukul; Gupta, Arpita; Thukral, Brij Bhushan

    2016-01-01

    Kawasaki disease is a systemic medium vessel vasculitis of unknown etiology affecting children under 5 years of age. There are no specific diagnostic tests, and thus, the diagnosis of the disease is primarily made on the basis of clinical criteria. Unusual presentations of Kawasaki disease have been variably reported from different parts of the world. However, presentation of the disease in the form of peripheral thromboembolism and florid non-coronary aneurysms has rarely been described This report describes the imaging findings in infantile atypical Kawasaki disease with aneurysms of multiple medium-sized arteries, including coronary arteries, emphasizing the detection of clinically silent aneurysms in the disease.

  17. Quality-of-care indicators for infantile spasms.

    PubMed

    Wang, C Jason; Jonas, Rinat; Fu, Chong Min; Ng, Chun Y; Douglass, Laurie

    2013-01-01

    We developed a comprehensive set of quality-of-care indicators for the management of children with infantile spasms in the United States, encompassing evaluation, diagnosis, treatment, and prevention and management of side effects and comorbidities. The indicators were developed using the RAND/UCLA Modified Delphi Method. After a focused review of the literature and guidelines by the study team, an expert panel (nominated by leaders of Child Neurology Society, American Epilepsy Society, and National Institute for Neurologic Disorders) rated the draft indicators anonymously, met face-to-face to discuss each indicator, and rerated the revised indicators on validity, feasibility, and importance. The panel recommended 21 indicators, of which 8 were identified as most likely to have a large positive impact on improving quality of life and/or health outcomes for children with infantile spasms. The proposed indicators can be used to assess and document variations and gaps in quality-of-care and inform future research and quality improvement interventions.

  18. [Malignant infantile osteopetrosis revealed by choanal atresia: A case report].

    PubMed

    Ba, I D; Ba, A; Thiongane, A; Ly/Ba, A; Ba, M; Fattah, M; Faye, P M; Cissé, D F; Diouf, F N

    2016-05-01

    Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis. The blood count showed normocytic normochromic anemia with severe thrombocytopenia. The infectious work-up and blood smears were negative. The skeleton X-ray showed diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The molecular biology search for the TCIRG1 gene mutation was not available. The patient had supportive treatment (transfusion, oral steroid, vitamin D, oxygen, nutrition). Bone marrow transplantation was indicated but not available. She died at 6 months in a context of severe anemia and bleeding. Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment.

  19. Cardiovascular Profile of Propranolol after Multiple Dosing in Infantile Hemangioma.

    PubMed

    Salice, Patrizia; Giovanni Bianchetti, Mario; Giavarini, Alessandra; Gondoni, Erica; Cavalli, Riccardo; Maria Colli, Anna; Lombardi, Federico

    2017-01-01

    Propranolol is becoming the treatment of choice for complicated infantile hemangioma. We report here data on peripheral blood flow, O2-saturation, electrocardiographic PR-interval, left ventricular function, blood pressure and heart rate that were assessed before and during treatment for ≥4 weeks with propranolol 2 mg/kg of body weight daily in 67 infants <12 months of age in normal sinus rhythm and with structurally normal hearts. Management with propranolol was well tolerated in all and did not modify peripheral blood flow, O2-saturation, electrocardiographic PR-interval and left ventricular fractional shortening or ejection fraction. Absolute blood pressure levels were similar without and with propranolol. However, age-adjusted centile levels for both systolic and diastolic levels were significantly lower while on propranolol. The heart rate was significantly lower both when expressed as absolute value and when expressed as age-adjusted centile on treatment with propranolol. In conclusion, propranolol 2 mg/kg of body weight daily causes a statistically though not clinically relevant decrease in blood pressure and heart rate in cardially healthy infants affected by infantile hemangioma. Temporary discontinuation during acute febrile illnesses and during diarrheal diseases should be considered to prevent excessive hypotension.

  20. Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child

    PubMed Central

    Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

    2015-01-01

    Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

  1. Spontaneous resolution of an infantile hemangioma in a dorsal root ganglion.

    PubMed

    Hervey-Jumper, Shawn L; McKeever, Paul E; Gebarski, Stephen S; Muraszko, Karin M; Maher, Cormac O

    2011-12-01

    Infantile hemangiomas are tumors commonly seen in children. Few authors have reported infantile hemangiomas affecting the CNS, and there are no prior reports detailing spontaneous resolution of a histologically proven juvenile hemangioma within a dorsal root ganglion. The authors report the case of a newborn boy with a large cutaneous hemangioma in the midline of his back. Spinal MR images were obtained to rule out associated spinal cord tethering, and an intradural spinal lesion was unexpectedly discovered. Biopsy revealed an intradural infantile hemangioma within the dorsal root ganglion, and, based on this diagnosis, no resection was performed. Sixteen months following the biopsy, the cutaneous hemangioma had become involuted and the intradural hemangioma had completely resolved. The behavior of the intradural component in this case follows the natural history of many cutaneous infantile hemangiomas.

  2. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

    PubMed

    Zhang, L M; An, Y; Pan, G; Ding, Y F; Zhou, Y F; Yao, Y H; Wu, B L; Zhou, S Z

    2015-09-01

    Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathetosis (ICCA). We reported a PRRT2 heterozygous mutation (c.604-607delTCAC, p.S202Hfs*25) in a 3-generation Chinese family with infantile convulsion and choreoathetosis and paroxysmal kinesigenic dyskinesia. The mutation was present in 5 family members, of which 4 were clinically affected and 1 was an obligate carrier with reduced penetrance of PRRT2. The affected carriers of this mutation presented with a similar type of infantile convulsion during early childhood and developed additional paroxysmal kinesigenic dyskinesia symptoms later in life. In addition, they all had a dramatic clinical response to oxcarbazepine/phenytoin therapy. Reduced penetrance of the PRRT2 mutation in this family could warrant genetic counseling.

  3. Adrenocorticotropic hormone versus prednisolone in the treatment of infantile spasms post vigabatrin failure.

    PubMed

    Jones, Kevin; Snead, O Carter; Boyd, Jennifer; Go, Cristina

    2015-04-01

    The Child Neurology Society/American Academy of Neurology practice parameter has recommended adrenocorticotropic hormone or vigabatrin in the short-term treatment of infantile spasms. When vigabatrin is unavailable or ineffective and adrenocorticotropic hormone is not a treatment option because of the prohibitive cost, other forms of corticosteroids have been considered in the treatment of infantile spasms. This retrospective study reviewed the Hospital for Sick Children's experience with the short-term effectiveness of prednisolone versus adrenocorticotropic hormone in patients with infantile spasms who have failed vigabatrin. The results showed that while adrenocorticotropic hormone was more likely to lead to short-term spasm freedom, there was no difference in the likelihood of longer-term spasm resolution without relapse. These findings can guide clinicians in the treatment of infantile spasms post vigabatrin failure.

  4. Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms.

    PubMed

    Peltzer, Bradley; Alonso, William D; Porter, Brenda E

    2009-04-01

    Historically, adrenocorticotropic hormone was used as a first-line treatment for infantile spasms; however, there has been increasing use of topiramate as initial therapy. Here, we report a retrospective study of adrenocorticotropic hormone (ACTH) and topiramate as initial treatment for infantile spasms. The neurology patient database at the Children's Hospital of Philadelphia was searched using the International Classification of Diseases, Ninth Revision code for infantile spasms, and 50 patients were randomly chosen for chart review. We identified 31 patients receiving either adrenocorticotropic hormone or topiramate monotherapy (adrenocorticotropic hormone n = 12, topiramate n = 19) as a first-line treatment for infantile spasms. A total of 26 patients were symptomatic and 5 cryptogenic. Six patients treated with adrenocorticotropic hormone had resolution of clinical spasms and hypsarrhythmia within a month, but 3 relapsed. Of the 19 patients treated with topiramate, 4 patients eventually, though over a period of 0, 1, 8, or 69 months, had resolution of spasms and hypsarrhythmia.

  5. Rare association of central pontine myelinolysis with infantile tremor syndrome

    PubMed Central

    Datta, Kalpana; Datta, Supratim; Dutta, Indranil

    2012-01-01

    Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects. PMID:22412274

  6. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

    PubMed

    Horvath, Rita; Kemp, John P; Tuppen, Helen A L; Hudson, Gavin; Oldfors, Anders; Marie, Suely K N; Moslemi, Ali-Reza; Servidei, Serenella; Holme, Elisabeth; Shanske, Sara; Kollberg, Gittan; Jayakar, Parul; Pyle, Angela; Marks, Harold M; Holinski-Feder, Elke; Scavina, Mena; Walter, Maggie C; Coku, Jorida; Günther-Scholz, Andrea; Smith, Paul M; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M A; Lightowlers, Robert N; Hirano, Michio; Lochmüller, Hanns; Taylor, Robert W; Chinnery, Patrick F; Tulinius, Mar; DiMauro, Salvatore

    2009-11-01

    Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.

  7. [Infection by Toxoplasma gondii in children with infantile cerebral palsy].

    PubMed

    Tay, J; Gutiérrez Quiroz, M; Fernández Presas, A M; Romero Cabello, R; Ruiz González, L; Martínez Barbabosa, I

    1997-01-01

    An analytic relationship between positivity of the indirect immunofluorescent test (IIFT) for toxoplasmosis and clinical findings in a population of 328 children with cerebral infantile palsy (CIP) was performed. Children were distributed by age in one of four groups: I (0-2 years); II (3-6 years); III (7-12 years) and IV (13-18 years). One control group of 168 children with no PCI clinical findings was included. 125 sera were positive at 1:64 dilutions. The study of the binomial mother-child of 40 cases rendered 26 mothers with significant titer values. The majority of positive mothers to IIFT correlated with the youngest children (Groups I, II and III), mainly with group I (70.0%), which showed the highest titer ranges. Correlation between positive IIFT and clinical features was as high as 100.0%.

  8. Neonatal and infantile spinal sonography: A useful investigation often underutilized.

    PubMed

    Nair, Nikhil; Sreenivas, M; Gupta, Arun K; Kandasamy, Devasenathipathy; Jana, Manisha

    2016-01-01

    Sonography is an ideal, effective, noninvasive tool for evaluation of the spinal cord in neonatal and early infantile age groups owing to lack of ossification of the posterior elements of spine. Understanding normal anatomical appearances is a prerequisite for the interpretation of various pathologies of the spinal canal and its contents. This review elucidates normal appearances of the spinal cord in this age group, in both axial and sagittal planes. Usefulness of Doppler sonography is briefly discussed, and special emphasis is placed on normal anatomical variants that may mimic spinal abnormalities. Sonographic appearances of common intraspinal pathologies, both congenital and acquired, are exhaustively described. Key points regarding sonographic diagnosis of important spinal anomalies are emphasized and explained in detail. To conclude, spinal ultrasound is a reliable and widely available screening tool, albeit the usefulness of which is often underestimated.

  9. Neonatal and infantile spinal sonography: A useful investigation often underutilized

    PubMed Central

    Nair, Nikhil; Sreenivas, M; Gupta, Arun K; Kandasamy, Devasenathipathy; Jana, Manisha

    2016-01-01

    Sonography is an ideal, effective, noninvasive tool for evaluation of the spinal cord in neonatal and early infantile age groups owing to lack of ossification of the posterior elements of spine. Understanding normal anatomical appearances is a prerequisite for the interpretation of various pathologies of the spinal canal and its contents. This review elucidates normal appearances of the spinal cord in this age group, in both axial and sagittal planes. Usefulness of Doppler sonography is briefly discussed, and special emphasis is placed on normal anatomical variants that may mimic spinal abnormalities. Sonographic appearances of common intraspinal pathologies, both congenital and acquired, are exhaustively described. Key points regarding sonographic diagnosis of important spinal anomalies are emphasized and explained in detail. To conclude, spinal ultrasound is a reliable and widely available screening tool, albeit the usefulness of which is often underestimated. PMID:28104945

  10. Infantile tremor syndrome: Role of Vitamin B12 revisited

    PubMed Central

    Gupta, Rajesh; Mandliya, Jagdish; Sonker, Pavan; Patil, Vandana; Agrawal, Manish; Pathak, Ashish

    2016-01-01

    Objective: To study the role of Vitamin B12 as an etiological factor in patients of infantile tremor syndrome (ITS). Methods: Twelve consecutive admissions of children diagnosed clinically as ITS were assessed. Assessment was done using a predefined pro forma to document patient demographic factors, general examination, systemic examination as well as relevant hematological and biochemical investigations. Results: Out of the 12 cases of ITS, 6 were males and 6 were females. Two cases had serum B12 levels below reference values, five had levels in low normal range, and remaining five had normal values. Conclusions: Role of Vitamin B12 deficiency as an etiological factor in the patients of ITS is inconclusive. PMID:28217151

  11. Persistent neurogenic bladder dysfunction due to infantile botulism.

    PubMed

    Breinbjerg, Anders; Rittig, Søren; Kamperis, Konstantinos

    2014-01-13

    We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying.

  12. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders.

  13. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study.

    PubMed

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies.

  14. Pathophysiology of infantile pulmonary arterial hypertension induced by monocrotaline.

    PubMed

    Dias-Neto, Marina; Luísa-Neves, Ana; Pinho, Sónia; Gonçalves, Nádia; Mendes, Maria; Eloy, Catarina; Lopes, José M; Gonçalves, Daniel; Ferreira-Pinto, Manuel; Leite-Moreira, Adelino F; Henriques-Coelho, Tiago

    2015-06-01

    Pediatric pulmonary arterial hypertension (PAH) presents certain specific features. In this specific age group, experimental models to study the pathophysiology of PAH are lacking. To characterize hemodynamic, morphometric, and histological progression as well as the expression of neurohumoral factors and regulators of cardiac transcription in an infantile model of PAH induced by monocrotaline (MCT), eight-day-old Wistar rats were randomly injected with MCT (30 mg/kg, sc, n = 95) or equal volume of saline solution (n = 92). Animals were instrumented for biventricular hemodynamic recording 7, 14, and 21 days after MCT, whereas samples were collected at 1, 3, 7, 14, and 21 days after MCT. Different time point postinjections were defined for further analysis. Hearts and lungs were collected for morphometric characterization, assessment of right- and left-ventricle (RV and LV) cardiomyocyte diameter and collagen type-I and type-III ratio, RV collagen volume fraction, and pulmonary vessels wall thickness. mRNA quantification was undertaken for brain natriuretic peptide (BNP), endothelin-1 (ET-1), and for cardiac transcription regulators (HOP and Islet1). Animals treated with MCT at the 8th day of life presented RV hypertrophy since day 14 after MCT injection. There were no differences on the RV collagen volume fraction or collagen type-I and type-III ratio. Pulmonary vascular remodelling and PAH were present on day 21, which were accompanied by an increased expression of BNP, ET-1, HOP, and Islet1. The infantile model of MCT-induced PAH can be useful for the study of its pathophysiology and to test new therapeutic targets in pediatric age group.

  15. Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.

    PubMed

    Lee, Chee-Seng; Kimura, Akihiko; Wu, Jia-Feng; Ni, Yen-Hsuan; Hsu, Hong-Yuan; Chang, Mei-Hwei; Nittono, Hiroshi; Chen, Huey-Ling

    2017-03-01

    Tetrahydroxy bile acids (THBAs) are hydrophilic and are present at minimal or undetectable levels in healthy human adults, but are present at high levels in bile salt export pump (abcb11)-knockout mice. The roles of THBAs in human cholestatic diseases are unclear. We aimed to investigate the presence of THBAs in patients with infantile intrahepatic cholestasis and its correlation with outcome. Urinary bile acids (BAs) were analyzed by GC-MS. Data were compared between good (n = 21) (disease-free before 1 year old) and poor prognosis groups (n = 19). Good prognosis patients had a higher urinary THBA proportion than poor prognosis patients [25.89% (3.45-76.73%) vs. 1.93% (0.05-48.90%)]. A urinary THBA proportion >7.23% predicted good prognosis with high sensitivity (95.24%), specificity (84.21%), and area under the curve (0.91) (P < 0.0001). A THBA proportion 7.23% was an independent factor for decreased transplant-free survival (hazard ratio = 7.16, confidence interval: 1.24-41.31, P = 0.028). Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n = 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs). Three patients with an ATP8B1 mutation had an elevated THBA proportion (7.51-37.26%). In conclusion, in addition to disease entity as a major determinant of outcome, a high THBA level was associated with good outcome in the infantile intrahepatic cholestasis patients.

  16. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

    PubMed Central

    2013-01-01

    Background Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA. Methods Clinical data were collected from 22 families with BFIE and eight families with ICCA. PRRT2 mutations were screened using PCR and direct sequencing. Results Ninety-five family members were clinically affected in the 22 BFIE families. During follow-up, two probands had one seizure induced by diarrhea at the age of two years. Thirty-one family members were affected in the eight ICCA families, including 11 individuals with benign infantile epilepsy, nine with PKD, and 11 with benign infantile epilepsy followed by PKD. Two individuals in one ICCA family had PKD or ICCA co-existing with migraine. One affected member in another ICCA family had experienced a fever-induced seizure at 7 years old. PRRT2 mutations were detected in 13 of the 22 BFIE families. The mutation c.649_650insC (p.R217PfsX8) was found in nine families. The mutations c.649delC (p.R217EfsX12) and c.904_905insG (p.D302GfsX39) were identified in three families and one family, respectively. PRRT2 mutations were identified in all eight ICCA families, including c.649_650insC (p.R217PfsX8), c.649delC (p.R217EfsX12), c.514_517delTCTG (p.S172RfsX3) and c.1023A > T (X341C). c.1023A > T is a novel mutation predicted to elongate the C-terminus of the protein by 28 residues. Conclusions Our data demonstrated that PRRT2 is the major causative gene of BFIE and ICCA in Chinese families. Site c.649 is a mutation hotspot: c.649_650insC is the most common mutation, and c.649delC is the second most common mutation in Chinese families with BFIE and ICCA. As far as we know, c.1023A > T is the first reported mutation in exon 4 of PRRT2. c.649delC was previously reported in

  17. Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

    PubMed Central

    2014-01-01

    Introduction Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis. Case presentation We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely. Conclusions Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion. PMID:24886244

  18. Advances in the management of congenital and infantile cataract.

    PubMed

    Lloyd, I C; Ashworth, J; Biswas, S; Abadi, R V

    2007-10-01

    Congenital and infantile cataracts produce deprivation amblyopia and can thus cause lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Accurate optical rehabilitation and postoperative supervision are essential.The timing of surgery and its relationship to the duration of deprivation is important. Unilateral congenital cataract surgery within 6 weeks of birth produces the best outcomes. The equivalent 'latent' period for bilateral visual deprivation may be longer at around 10 weeks. Visual deprivation has a significant impact on the development of fixation stability. Major form deprivation, even after early surgery, leads to nystagmus. This is mostly manifest latent nystagmus (MLN). The latent period for fixation stability may be as short as 3 weeks. Preoperative congenital nystagmus (CN) can convert to more benign MLN after surgery. Infantile IOL implantation is becoming increasingly accepted. A satisfactory long-term refractive result requires that allowance be made for childhood axial growth and myopic shift. In a series of 25 infants (33 eyes) implanted before 12 months of age, the mean myopic shift at 12 months was 4.83 D. This increased to 5.3 D in infants implanted before 10 weeks. The initial desired refractive outcome following IOL implantation is thus hypermetropia, with the degree dependent on the age of the child. Glaucoma or ocular hypertension is a common complication following paediatric cataract surgery. Microphthalmia and surgery in early infancy are risk factors. Tonometry results may be influenced by the increased corneal thickness seen in aphakic and pseudophakic children. The long-term prognosis of eyes with aphakic glaucoma is not necessarily poor but intraocular pressure control may require three or more medications. Surgical intervention appears to be necessary in over a quarter of eyes. Posterior capsule opacification (PCO) is common in infants undergoing primary lens

  19. YouTube videos as a teaching tool and patient resource for infantile spasms.

    PubMed

    Fat, Mary Jane Lim; Doja, Asif; Barrowman, Nick; Sell, Erick

    2011-07-01

    The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed.

  20. The pigment epithelium-derived factor (PEDF): an important potential therapeutic agent for infantile hemangioma.

    PubMed

    Li, Ming; Chen, Yanru; Guo, Zhihui; Xie, Yide; Zhou, Yakuan; Jiang, Chenghong; Chen, Xiaosong

    2017-04-01

    In previous studies, the expression and the role of proangiogenic factors in infantile hemangiomas have been well studied. However, the role of angiogenic inhibitors has been revealed rarely. The expression of PEDF, as the strongest and safe endogenous inhibitor, is still unrecognized until the current study. In order to investigate the expression and significance of the pigment epithelium-derived factor (PEDF) in the proliferating and regressing phases of infantile hemangiomas, the expression of PEDF, VEGF, Ki-67, and CD34 protein in hemangioma tissues was examined with immunohistochemical polymer HRP method in 42 cases during the proliferative phase, 40 cases during the regressing phase, and 11 cases of non-involuting congenital hemangiomas (NICHs). Meanwhile, the mRNA expression of these factors was detected with quantitative realtime RT-PCR. We found the protein and mRNA expression of PEDF in regressing phase was significantly higher than those in proliferative phase and NICHs (P < 0.001), while the protein and mRNA expression of VEGF were much lower (P < 0.001). The microvessel density (MVD), Ki-67 changes, and the expression of PEDF and VEGF were found significantly correlated. These results indicated that the reduction of VEGF and increase in PEDF are causative to the evolution of infantile hemangioma. PEDF may play a key role in the spontaneous regression of infantile hemangioma and may become an important potential therapeutic agent for infantile hemangioma.

  1. The Controversial Role of Food Allergy in Infantile Colic: Evidence and Clinical Management

    PubMed Central

    Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Berni Canani, Roberto

    2015-01-01

    Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow’s proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option. PMID:25808260

  2. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions.

  3. Magnetic resonance imaging in infantile spasms: effects of hormonal therapy.

    PubMed

    Konishi, Y; Yasujima, M; Kuriyama, M; Konishi, K; Hayakawa, K; Fujii, Y; Ishii, Y; Sudo, M

    1992-01-01

    Magnetic resonance imaging (MRI) was performed on five patients with infantile spasms who were treated with relatively low doses of adrenocorticotrophic hormone (ACTH) to study the extent of brain shrinkage induced by ACTH therapy. MRI prior to ACTH therapy revealed periventricular hyperintensity (PVH) areas and poor myelination in four patients. In one case, MRI performed 2 days after initiation of ACTH therapy also showed PVH and poor myelination. Brain shrinkage was observed 2 weeks after initiation of ACTH therapy. The most impressive follow-up finding upon MRI was the decrease in PVH found in four patients. The differentiation between myelinated white matter and surrounding cortex became poorer in three cases. Cortical atrophy progressed in all patients but ventricular dilation progressed in only one patient. At the end of ACTH therapy, ventricular dilation progressed in all cases. These findings suggest that loss of water not only from periventricular white matter but also from cortex is the main etiological factor of brain shrinkage induced by ACTH.

  4. Treatment of an infantile acne with oral isotretinoin.

    PubMed

    Sarazin, F; Dompmartin, A; Nivot, S; Letessier, D; Leroy, D

    2004-01-01

    We report the case of a little girl who presented with a nodulocystic acne which had its onset at the age of 20 months. She had no clinical or biological features of endocrinopathy. The lesions did not respond to conventional antibiotics so she was started on oral isotretinoin. A seven-month treatment period was necessary to achieve remission. The onset of infantile acne is usually around 6 to 16 months and there is a male predominance. The onset is later in females. Oral erythromycin is the first line treatment when topical therapies are inefficacious. Some cystic lesions do not respond to oral antibiotics. In these cases, oral isotretinoin may be effective and the treatment is similar to that of an adult. Clinical and biological tolerance is good with no growth retardation. Lesions may relapse after the withdrawal of isotretinoin but they are less important and easily controlled with topical treatments. Isotretinoin can be used for nodulocystic acne to reduce the risk of scarring.

  5. Infantile seborrheic dermatitis: a pediatric Siddha medicine treatise.

    PubMed

    Thambyayah, Malinee; Amuthan, Arul

    2015-01-01

    Siddha medicine is one of the oldest (5000 years old) well-documented Indian traditional medicines, compared with Ayurveda, Unani, and traditional Chinese medicine, by way of keen observation and experimentation. It mentions 108 diseases that occur in childhood, which are further classified and described into various subtypes based on the clinical features and different stages of a particular disease. The authors translate the elegant and detailed description of one neonatal disorder, infantile seborrheic dermatitis (cradle cap), called kabaala kuttam (KK), described in 17 stanzas of four lines for each stanza from Tamil language script into English. There are five different types of cradle cap, including white type, dark black type, red type, weeping type, and toxic type. Four polyherbal formulations are described for external and oral administration, in which there is mention of 39 herbals and pure sulfur as ingredients. The safety and efficacy of these herbal products varies and has not been fully explored in infants, but may represent options for clinical development.

  6. Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia.

    PubMed

    Engiz, Ozlem; Kara, Semra; Bagrul, Denizhan; Lahr, Georgia; Alioglu, Bulent; Arikan, Inci; Bilge, Yıldız Dallar

    2012-01-01

    Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness, and bone fractures. Children with IMO are at risk of developing hypocalcemia, with attendant tetanic seizures. We report the case of a baby boy who presented with neonatal hypocalcemia. Skeletal radiographs demonstrated sclerotic bones and a dense base of the skull with typical "space alien" face confirming the diagnosis of IMO. Pancytopenia developed at 2 months of age. Visual evoked potential showed severe bilateral optic nerve damage. Genetic mutation study revealed a new mutation in exon 13 of the TCIRG1 gene. Neonatal hypocalcemia can occur as result of IMO, which is easily missed out by clinicians. This causes delay in establishing the diagnosis and starting necessary treatment. Therefore, osteopetrosis should be kept in mind as a rare cause of neonatal hypocalcemia.

  7. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

    PubMed Central

    Glenberg, Arthur M.; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  8. Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma

    NASA Astrophysics Data System (ADS)

    Joos, Karen M.; Alward, Wallace L. M.; Folberg, Robert

    1993-06-01

    Goniotomy is an effective treatment for primary infantile glaucoma. Unlike trabeculotomy, goniotomy facilitates the visualization of the trabecular meshwork and does not disturb the conjunctiva. Because a cloudy cornea may prevent a clear view of the anterior chamber angle through the operating microscope, we investigated whether an endoscope would improve visualization during goniotomy in pig cadaver eyes. We deepened the anterior chamber of each pig eye with viscoelastic material. A modified 23-gauge needle attached to an Olympus 0.8 mm diameter flexible fiberoptic endoscope entered the anterior chamber through a 3 mm limbal incision. The angle was clearly seen on a videoscreen as the needle approached and incised the trabecular pillars for 120 degree(s); the iris immediately fell back. Following the procedure, the eyes were fixed in formalin and sectioned for light microscopy, or fixed in 2% glutaraldehyde for scanning electron microscopy. Trabecular pillars were present from the iris root to Schwalbe's line in the untreated region of the anterior chamber angle. The treated area demonstrated incision of the trabecular pillars with opening of the underlying trabecular meshwork.

  9. [Three infants with constipation and muscular weakness: infantile botulism].

    PubMed

    Thomasse, Y; Arends, J P; van der Heide, P A; Smit, L M E; van Weerden, T W; Fock, J M

    2005-04-09

    Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clostridium botulinum toxin was obtained in serum from all three children. Type-B-toxin was shown in the faeces of the older girl and boy; both recovered quickly. The other girl had type-A toxin; she died. Two of the three children were given honey to comfort them. Infantile botulism must be considered in every infant with symptoms of constipation and hypotonia. The diagnosis can quickly be confirmed by electromyography with repetitive 50-Hz-stimulation. Honey is a well-known source of the C. botulinum spore and should not be given to children under the age of 12 months. These three children are the first cases to be described in the Netherlands.

  10. Epigenetic regulation of glucocorticoid receptor and infantile spasms.

    PubMed

    Yang, Guang; Zou, Li-Ping; Wang, Jing; Ding, Ying-Xue

    2011-02-01

    IS is one of the few seizure syndromes that can be alleviated by adrenocorticotropic hormone (ACTH) or glucocorticoids (GCs) that are considered effective drugs of choice. This indicates that, indeed, IS may be fundamentally different from most other seizure disorders owing to the dysregulation of the hypothalamic-hypophysial-adrenal axis. GCs have multiple critical effects on fetal development, especially in normal brain development. Most glucocorticoid effects are mediated by the glucocorticoid receptor (GR), a steroid-activated nuclear receptor that translocates to the nucleus upon binding to cortisol. In the nucleus, GR targets genes related to neuronal metabolism and plasticity. The GR has also been characterized as a critical checkpoint in the delicate hormonal control of energy homeostasis. Recent studies suggest a possible correlation between prenatal stress and the onset of infantile spasms. In this paper, we propose a hypothesis that connects the adverse events in early life with the onset of IS through methylation of the GR gene, which is an epigenetic mechanism.

  11. Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

    PubMed

    Skalova, Sylva; Cerna, Lucie; Bayer, Milan; Kutilek, Stepan; Konrad, Martin; Schlingmann, Karl-Peter

    2013-03-01

    Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.  

  12. Infantile onset diabetes mellitus in developing countries - India.

    PubMed

    Varadarajan, Poovazhagi

    2016-03-25

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.

  13. Intravenous atropine treatment in infantile hypertrophic pyloric stenosis

    PubMed Central

    Kawahara, H; Imura, K; Nishikawa, M; Yagi, M; Kubota, A

    2002-01-01

    Aims: To assess the efficacy of a new regimen of intravenous atropine treatment for infantile hypertrophic pyloric stenosis (IHPS) with special reference to regression of pyloric hypertrophy. Methods: Atropine was given intravenously at a dose of 0.01 mg/kg six times a day before feeding in 19 patients with IHPS diagnosed from radiographic and ultrasonographic findings. When vomiting ceased and the infants were able to ingest 150 ml/kg/day formula after stepwise increases in feeding volume, they were given 0.02 mg/kg atropine six times a day orally and the dose was decreased stepwise. Results: Of the 19 infants, 17 (89%) ceased projectile vomiting after treatment with intravenous (median seven days) and subsequent oral (median 44 days) atropine administration. The remaining two infants required surgery. No significant complications were encountered. Ultrasonography showed a significant (p < 0.05) decrease in pyloric muscle thickness, but no significant shortening of the pyloric canal after completion of the atropine treatment. The patients exhibited failure to thrive at presentation, but were thriving at 6 months of age (p < 0.01). Conclusions: This atropine therapy resulted in satisfactory clinical recovery. Pyloric muscle thickness was significantly reduced. PMID:12089130

  14. Infantile onset diabetes mellitus in developing countries - India

    PubMed Central

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  15. Poliomyelitis and infantile paralysis: changes in host and virus.

    PubMed

    Wyatt, H V

    1993-01-01

    Death of motor neurones following invasion of the central nervous system by poliovirus may result in paralysis of specific muscles. Virulence may be tested by injection into monkeys by routes which bypass natural infection. Transmissibility is also very important, but cannot be measured, only inferred. An infection may lead to immunity or paralysis. In epidemics, the highest incidence among children 0-2 years was 2% and among those over 10 years was 25%: these figures fit a model of genetic susceptibility of homozygotes and heterozygotes with phenotypic susceptibility increasing with age. Hypogamma-globulinemics, some neonates and pregnant women are more susceptible than others. Intra-muscular injections may increase the risk of paralysis. Strenuous exercise and IM injections given when poliovirus has already reached the spinal cord can increase the severity of paralysis or convert a non-paralytic attack to paralysis. Although vaccines reduced polio in temperate countries, polio was thought to be no problem in the tropics. Since 1977 polio has been recognised as a massive problem in the third world: because it affects babies and very young children, it is properly infantile paralysis.

  16. Incidence and treatment of infantile haemangioma in preterm infants.

    PubMed

    Goelz, Rangmar; Poets, Christian F

    2015-01-01

    Infantile haemangioma (IH) are vascular tumours with a unique growth dynamic, mostly absent at birth, growth in the first months followed by involution over several years, often resulting in residual skin changes. Immune-histologically, IH cells are exclusively glucose transporter protein-1 positive.The incidence of IH is increasing with decreasing gestational age, from 1-4% in term infants to 23% in those of <1000 g birth weight, with a female and Caucasian predominance. Discovery of systemic and topical beta blockers as an effective treatment option resulted in a rapid shift away from systemic steroids towards these drugs. For preterm infants, however, data on efficacy, pharmacokinetics and long-term safety are sparse or absent. Topical treatment without systemic side effects like cryotherapy may thus be an attractive alternative at an early growth stage (<10 mm). Indications for treatment with beta blockers, mostly propranolol systemically and timolol maleat 0.5% topically, are currently extrapolated from studies in older infants. Both seem effective, but adverse effects on sleep, circulation and metabolism are well described for propranolol. Long-term outcome data for either drug are missing. In conclusion, evidence on optimal IH treatment in preterms is lacking despite their high incidence; pharmacokinetic and clinical studies are warranted.

  17. Oculomotor Neurocircuitry, a Structural Connectivity Study of Infantile Nystagmus Syndrome

    PubMed Central

    Kashou, Nasser H.; Zampini, Angelica R.

    2015-01-01

    Infantile Nystagmus Syndrome (INS) is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI). Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs) were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics). The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left), brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA) values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS. PMID:25860806

  18. Quick Phases of Infantile Nystagmus Show the Saccadic Inhibition Effect

    PubMed Central

    Harrison, James J.; Sumner, Petroc; Dunn, Matt J.; Erichsen, Jonathan T.; Freeman, Tom C. A.

    2015-01-01

    Purpose. Infantile nystagmus (IN) is a pathological, involuntary oscillation of the eyes consisting of slow, drifting eye movements interspersed with rapid reorienting quick phases. The extent to which quick phases of IN are programmed similarly to saccadic eye movements remains unknown. We investigated whether IN quick phases exhibit ‘saccadic inhibition,' a phenomenon typically related to normal targeting saccades, in which the initiation of the eye movement is systematically delayed by task-irrelevant visual distractors. Methods. We recorded eye position from 10 observers with early-onset idiopathic nystagmus while task-irrelevant distractor stimuli were flashed along the top and bottom of a large screen at ±10° eccentricity. The latency distributions of quick phases were measured with respect to these distractor flashes. Two additional participants, one with possible albinism and one with fusion maldevelopment nystagmus syndrome, were also tested. Results. All observers showed that a distractor flash delayed the execution of quick phases that would otherwise have occurred approximately 100 ms later, exactly as in the standard saccadic inhibition effect. The delay did not appear to differ between the two main nystagmus types under investigation (idiopathic IN with unidirectional and bidirectional jerk). Conclusions. The presence of the saccadic inhibition effect in IN quick phases is consistent with the idea that quick phases and saccades share a common programming pathway. This could allow quick phases to take on flexible, goal-directed behavior, at odds with the view that IN quick phases are stereotyped, involuntary eye movements. PMID:25670485

  19. The Role of FRMD7 in Idiopathic Infantile Nystagmus.

    PubMed

    Watkins, Rachel J; Thomas, Mervyn G; Talbot, Chris J; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton.

  20. The Role of FRMD7 in Idiopathic Infantile Nystagmus

    PubMed Central

    Watkins, Rachel J.; Thomas, Mervyn G.; Talbot, Chris J.; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton. PMID:21904664

  1. Neurodevelopmental outcomes in children with Down syndrome and infantile spasms

    PubMed Central

    Tapp, Sarah; Anderson, Tovi; Visootsak, Jeannie

    2015-01-01

    Down syndrome (DS) is the most common genetic cause of intellectual disability in the United States. The prevalence of seizure in individuals with DS is 1–13%, and infantile spasm (IS) occurs in 6–32% of those with seizures. Since IS is relatively common in children with DS, it is important to understand the impact IS has on the neurodevelopmental outcomes in order to provide appropriate anticipatory guidance to help maximize the potential of these children. Our study is the first to compare the neurodevelopmental outcomes of children with DS and IS (DS + IS) to children with DS and no history of seizures (DS − IS). Using the Bayley Scales of Infant and Toddler Development III, we assessed the neurodevelopment of 29 subjects (eight DS + IS and 21 DS − IS). Neurodevelopmental outcome was poor in the DS + IS cohort, but the delay in treatment does not appear to contribute to any differences in their developmental scores. However, when compared to children with DS − IS, the DS + IS cohort scored approximately 20 points less in all domains including cognitive, motor, and language (P < 0.05). Our results indicate that IS may impact the neurodevelopmental outcomes of children with DS + IS; thus, it is important to provide ongoing developmental and educational assessments and potentially additional therapies for children with DS + IS. PMID:26523121

  2. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

    PubMed

    Saito, Yoshiaki; Kubota, Masaya; Kurosawa, Kenji; Ichihashi, Izumi; Kaneko, Yuu; Hattori, Ayako; Komaki, Hirofumi; Nakagawa, Eiji; Sugai, Kenji; Sasaki, Masayuki

    2011-05-01

    A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.

  3. A practical approach for the use of oral isotretinoin for infantile acne.

    PubMed

    Barnes, Cheryl J; Eichenfield, Lawrence F; Lee, Jungho; Cunningham, Bari B

    2005-01-01

    Infantile acne is a rare occurrence. It is more common in boys and predominately occurs on the cheeks in infants between the ages of 1 and 16 months. Clinically, the lesions range from comedones to inflammatory papulopustules to cysts. Successful therapies include topical tretinoin, benzoyl peroxide and topical and oral erythromycin. For more serious cases, oral isotretinoin (Accutane) has been reported to successfully treat recalcitrant infantile cystic acne. We describe two additional patients with infantile cystic acne treated successfully with oral isotretinoin. The dose of isotretinoin used ranged from 0.2 mg/kg/day to 1.5 mg/kg/day. The treatment duration varied from 5 to 14 months. Careful monthly monitoring is recommended because of the many side effects reported with isotretinoin. Practical tips for the administration of oral isotretinoin in infants are reviewed.

  4. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self.

  5. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

    PubMed

    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age.

  6. Startle-induced seizures associated with infantile hemiplegia: implication of the supplementary motor area.

    PubMed

    Nolan, Melinda A; Otsubo, Hiroshi; Iida, Koji; Minassian, Berge A

    2005-03-01

    This case illustrates an uncommon form of symptomatic startle-induced epilepsy associated with infantile hemiplegia. Seizure semiology, neuroimaging and neurophysiological findings support involvement of the supplementary motor area in the generation of this seizure type. We present the case of an 11-year-old girl with an uncommon form of startle-induced seizures, illustrated on video-EEG, against the background of left infantile hemiplegia associated with extensive right hemispheric porencephaly but preserved cognitive functioning. The epileptic focus appears to be in the dorsolateral frontal lobe, with seizure semiology involving the supplementary motor cortex.

  7. The psoas muscle as cause of low back pain in infantile cerebral palsy

    PubMed Central

    Camoriano, R.; Valle, M.; Boero, S.

    2008-01-01

    Psoas muscle spasticity is hypothesised as a rare cause of low back pain in patients with infantile cerebral palsy. The authors describe a new manoeuvre for the study of psoas tenderness and ultrasound (US)-guided transabdominal botulinum toxin injection technique. A possible causal relationship between psoas tension and low back pain was found incidentally in two examined cases. In subsequent patients, botulinum toxin was injected and, in cases of disappearance of symptoms, the psoas tendon was sectioned at the pelvic brim with definitive disappearance of pain. The relationship between psoas tension and low back pain in patients with infantile cerebral palsy seems likely, given the result in the four patients. PMID:19384481

  8. Infantile Hypertrophic Pyloric Stenosis in Postoperative Esophageal Atresia with Tracheoesophageal Fistula.

    PubMed

    R A A, Hassan; Y U, Choo; R, Noraida; I, Rosida

    2015-01-01

    Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hypertrophic pyloric stenosis in this subset is usually delayed because of its rarity. We report a case of IHPS in postoperative EA and emphasize on high index of suspicion to avoid any delay in diagnosis with its metabolic consequences.

  9. Asperger syndrome associated with idiopathic infantile nystagmus--a report of 2 cases.

    PubMed

    Kumar, Anil; Sarvananthan, Nagini; Proudlock, Frank; Thomas, Mervyn; Roberts, Eryl; Gottlob, Irene

    2009-01-01

    Asperger syndrome is a severe and chronic developmental disorder. It is closely associated with autism and is grouped under autism spectrum disorder (ASD). Various eye movement abnormalities in AS have been reported in literature such as increased errors and latencies on the antisaccadic task implicating dysfunction of the prefrontal cortex, impairment of the pursuit especially for targets presented in the right visual hemisphere, suggesting disturbance in the left extrastraite cortex. There are no reports in the literature of association between idiopathic infantile nystagmus (IIN) and AS. We report 2 cases of Asperger syndrome associated with idiopathic infantile nystagmus.

  10. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.

    PubMed

    Sampaio, Mafalda; Rocha, Ruben; Biskup, Saskia; Leão, Miguel

    2015-04-01

    The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene. The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients. The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life.

  11. The cognitive--affective dilemma in early infantile autism: the case of Clarence.

    PubMed

    DesLauriers, A M

    1978-06-01

    This case study presents long-term follow-up data on Clarence, one of Kanner's original cases of infantile autism. Clarence's attempts to establish a heterosexual relationship and his plans for marriage are described. His success is attributed in part to therapeutic intervention, which was directed at promoting affective responsiveness in the patient. The case of Clarence is seen as lending support to the thesis of DesLauriers and Carlson (1969), who maintain that the core problem in infantile autism is a disturbance of affective contact.

  12. The therapy of infantile malignant brain tumors: current status?

    PubMed

    Kalifa, Chantal; Grill, Jacques

    2005-12-01

    Malignant brain tumors are not uncommon in infants as their occurrence before the age of three represents 20-25% of all malignant brain tumors in childhood [1]. Genetic predisposition to infantile malignant brain tumors are known in Gorlin syndrome for example who present with desmoplastic medulloblastoma in about 5% of the affected patients. In addition, sequelae from tumor and its treatment are more severe at this age [2]. Thus, malignant brain tumors represent a true therapeutic challenge in neuro-oncology. Before the era of modern imaging and modern neurosurgery these malignant brain tumors were misdiagnosed or could not benefit of the surgical procedures as well as older children because of increased risks in this age group. Since the end of the 80s, noninvasive imaging procedures produce accurate diagnosis of brain tumors and improvement in neurosurgery, neuroanesthesia and perioperative intensive care permit safe tumor resections or at least biopsies. Consequently, the pediatric oncologists are more often confronted with very young children who need a complementary treatment. Before the development of specific approaches for this age group, these children received the same kind of treatment than the older children did, but their survival and quality of life were significantly worse. The reasons of these poor results were probably due in part to the fear of late effects induced by radiation therapy, leading to decrease the necessary doses of irradiation which increased treatment failures without avoiding treatment related complications [3]. At the end of the 80s, pilot studies were performed using postoperative chemotherapy in young medulloblastoma patients. Van Eys treated 12 selected children with medulloblastoma with MOPP regimen and without irradiation; 8 of them were reported to be long term survivors [4]. Subsequently, the pediatric oncology cooperative groups studies have designed therapeutic trials for very young children with malignant brain tumors

  13. Infantile immunoglobulin A nephropathy showing features of membranoproliferative glomerulonephritis.

    PubMed

    Kurosu, Akira; Oka, Noriko; Hamaguchi, Takeshi; Yoshikawa, Norishige; Joh, Kensuke

    2012-01-01

    Immunoglobulin A nephropathy (IgAN) showing predominant IgA and complement 3 (C3) deposition on the mesangium is an immune complex-mediated glomerulonephritis. This renal disease is the most common primary glomerular disease worldwide. However, infantile onset of IgAN is rare. In the present patient, urinary protein and occult blood were detected in a girl aged 1 year and 8 months on urinalysis at a nursery school. Despite being young, a kidney biopsy was performed for diagnosis and the correct choice of therapy. Glomerular mesangial cell proliferation and a double contour of the glomerular basement membrane (GBM) resembling a railroad track were noted on light microscopy. Therefore, the patient was diagnosed morphologically with membranoproliferative glomerulonephritis (MPGN), because mesangial hypercellularity and thickening of the GBM were identified. However, on immunofluorescent staining, the deposition of immune complexes mainly consisting of IgA, IgG, and C3 was noted in the mesangial region and glomerular capillary loops. On electron microscopy, electron-dense deposits were recognized in the subendothelial and paramesangial regions associated with mesangial cell interposition into the subendothelial space. Autoimmune diseases and infection-associated secondary glomerulonephritis were clinically excluded, because there were no relevant signs or symptoms. Steroid treatment was initiated and findings of urinalysis were normalized within 8 months. This patient was finally diagnosed with IgA nephropathy showing the features of MPGN. The present patient was the youngest among reported cases of IgA nephropathy, suggesting that early onset of IgAN is associated with an MPGN-like lesion. The present report provides information for pathogenesis of IgA nephropathy.

  14. MRI Verification of a Case of Huge Infantile Rhabdomyoma

    PubMed Central

    Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

    2016-01-01

    Introduction: Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. Case report: A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. Conclusion: In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period. PMID:27147810

  15. Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms.

    PubMed

    Liu, Xiao-Ming; Li, Rui; Chen, Sheng-Zhi; Sang, Yan; Chen, Jiao; Fan, Cong-Hai

    2015-05-01

    The objective of this study is to explore the incidence of inherited metabolic disorders (IMD) in infants with infantile spasms (IS), with an attempt to improve the early diagnosis and etiological and symptomatic treatment. Urine and blood samples were collected from 60 IS patients and analyzed for the quantification of amino acids, organic acids, and fatty acids by gas chromatography-mass spectrometry and tandem mass spectrum. Routine urine tests, hepatic function tests, blood biochemistry, brain imaging, as well as examinations of the brain stem auditory/visual evoked potentials were also examined. In addition to antiepileptic therapy, etiological and symptomatic treatments were also conducted in infants with confirmed IMD and the follow-up lasted for 6 months in these pediatric patients. Metabolic disorders were found in 28 (46.67 %) of 60 IS infants, among them 13 (21.67 %) were confirmed to be with IMD. Twelve of these 13 IS patients with definite IMD diagnoses (92.31 %) experienced varying degrees of delayed development of intelligence and motor function, 8 patients (61.54 %) had abnormal cranial CT or MRI findings, 11 patients (84.61 %) had abnormal brain stem evoked potentials, 4 patients (30.77 %) had abnormal hepatic functions, 3 patients (23.07 %) had abnormal blood biochemistry, 2 patients (15.38 %) had positive (+ to ++) results for routine urine ketones, and 2 patients (15.38 %) had skin lesions. After treatment in children who were diagnosed IMD, the well controlled epileptic seizures and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each. IMD is a key biological cause in IS. Early screening for IMD is warranted in IS infants to facilitate the improvement for the prognosis and an early etiological treatment.

  16. Pharmacological therapies for infantile hemangiomas: A clinical study in 853 consecutive patients using a standard treatment algorithm.

    PubMed

    Zhang, Ling; Yuan, Wei-En; Zheng, Jia-Wei

    2016-02-15

    Infantile hemangiomas are the most common infantile benign vascular tumor. While most infantile hemangiomas proliferate then involute, some may persist and require treatment for reasons including risk of disfigurement or functional impairment. Treatments currently include observation, pharmacological therapy, laser, cryosurgery, surgery and radiotherapy. Although pharmacological therapy is a well accepted treatment option, limited studies have evaluated the efficacy of different drug therapies. In this study, we compare different pharmacological modalities in the management of infantile hemangiomas. The study included 853 infants with proliferative infantile hemangiomas who were treated with topical timolol, oral propranolol, intralesional pingyangmycin, or intravenous vincristine from 2009 to 2012. Treatment stratification was based on clinical severity of the tumor. Response to the treatment was clinically evaluated and graded as: excellent, good, poor, or no response. Response to pharmacological therapies was excellent in almost all infantile hemangiomas. In addition, patients younger than 8 months responded highly to pharmacological treatment (89.1%), while patients older than 8 months were less responsive to treatment (36.3%). There were no instances of life-threatening complications. Overall, these findings support the efficacy of timolol, propranolol, pingyangmycin and vincristine in the treatment of infantile hemangiomas, especially in the youngest patient cohort (8 months or younger).

  17. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  18. Transient brain shrinkage in infantile spasms after ACTH treatment. Report of two cases.

    PubMed

    Maekawa, K; Ohta, H; Tamai, I

    1980-02-01

    This is the report of two cases of infantile spasms, manifesting transient brain shrinkage in computerized tomography (CT) after ACTH treatment. ACTH was given for 8 weeks to a 8-months-old Japanese girl with infantile spasms. First CT performed at 2 weeks after the final ACTH injection, displayed moderate brain shrinkage. Second CT at 4 months showed marked diminution of the shrinkage. ACTH was also given for 8 weeks to a 14 months old Japanese boy with infantile spasms. First CT, just before ACTH treatment, showed mild cortical atrophy, the second at 7 days after the final ACTH injection revealed marked brain shrinkage and moderate ventricular dilatation, and the third at 2 months, disclosed mild improvement of the shrinkage. ACTH or corticoateroid has widespread effects on the developing nervous system. In animal experiments, ACTH or steroids interfere with brain growth of young rats. CT findings of transient brain shrinkage in a child with infantile spasms might suggest that intensive treatment with ACTH or steroids in infancy interferes with brain growth as seen in the results of animal experiments.

  19. [Prerequisites to the use of multichannel programmed muscle electrostimulation in patients with infantile cerebral palsy].

    PubMed

    Dotsenko, V I; Zhuravlev, A M; Esiutin, A A; Zuev, S L; Demin, P P; Markov, A A; Prokhorov, E V

    2002-01-01

    The paper deals with the use of multichannel programmed electrostimulation of muscles or artificial correction of movements to treat patients with infantile cerebral paralysis. This electrostimulation is a highly effective technique for correction of a pathological human motor stereotype and serves to consolidate the physiological movement patterns simulated during treatment sessions.

  20. XXY: The Hidden Disability and a Prototype for an Infantile Presentation of Developmental Dyspraxia (IDD).

    ERIC Educational Resources Information Center

    Samango-Sprouse, Carole; Rogol, Alan

    2002-01-01

    There is an increased incidence of language-learning disabilities with dyslexia by school age. As infants and toddlers, these children have neuromotor and speech dysfunction within their first year. This article postulates that the language and motor dysfunction is caused by infantile presentation of developmental dyspraxia rather than a…

  1. Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.

    PubMed

    Herbst, S M; Schirmer, S; Posovszky, C; Jochum, F; Rödl, T; Schroeder, J A; Barth, T F; Hehr, U; Melter, M; Vermehren, J

    2015-10-01

    Identifying rare genetic forms of infantile cholestasis is challenging due to their similar clinical presentation and their diverse etiology. After exclusion of common non-genetic causes a huge list of rare differential diagnosis remains to be solved. More than 90 genes are associated with monogenic forms of infantile cholestasis, thus preventing routine genetic workup by Sanger sequencing. Here we demonstrate a next generation sequencing approach to discover the underlying cause in clinically well characterized patients in whom common causes of infantile cholestasis have been excluded. After validation of the analytical sensitivity massive parallel sequencing was performed for 93 genes in six prospectively studied patients. Six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) and two known pathogenic mutations were detected proving our multi gene panel for infantile cholestasis to be a sensitive and specific method overcoming the complexity of the phenotype-based, candidate gene approach. Three exemplary clinical cases of infants with cholestasis are presented and discussed in the context of their genetic and histopathological findings (autosomal recessive polycystic kidney disease, atypical PFIC and Niemann-Pick syndrome type C1). These case reports highlight the critical impact of integrating clinical, histopathological and genetic data during the process of multi gene panel testing to ultimately pinpoint rare genetic diagnoses.

  2. Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

    ERIC Educational Resources Information Center

    Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

    2008-01-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

  3. [Infantile pyknocytosis: A cause of noenatal hemolytic anemia. Is recombinant erythropoietin an alternative to transfusion?].

    PubMed

    Bagou, M; Rolland, E; Gay, C; Patural, H

    2016-01-01

    Infantile pyknocytosis is a neonatal hemolytic disorder which causes anemia and icterus and is characterized by the presence of an increased number of distorted red blood cells called pyknocytes. Resolution spontaneously occurs in the first semester of life. It has been generally described as a rare entity, with an occasional family history. We report seven cases of infantile pyknocytosis observed in our hospital in 3 years. Most of the infants presented with hemolytic icterus and profound anemia that was reaching its peak by the 3rd week of life. Three neonates received one to three red blood cell transfusions, according to former recommendations. However, the following four received a treatment with recombinant erythropoietin administered subcutaneously. Only one of these four cases required a transfusion. All of them were free of hematological disease 2-3 months after completion of treatment. Infantile pyknocytosis is a recognized cause of neonatal hemolytic anemia, which requires careful examination of red cell morphology on a peripheral blood smear. The cause of this transient disorder remains unknown. Our observations show that recombinant erythropoietin therapy is effective in treating infantile pyknocytosis and increases the reticulocyte response, thus improving the hemoglobin level.

  4. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  5. Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories

    ERIC Educational Resources Information Center

    Peterson, Carole; Warren, Kelly L.; Short, Megan M.

    2011-01-01

    Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

  6. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  7. Delayed-onset of multiple cutaneous infantile hemangiomas due to propranolol: a case report.

    PubMed

    Porcel Chacón, Rocío; del Boz González, Javier; Navarro Morón, Juan

    2015-04-01

    Infantile hemangiomas are the most common vascular tumors in childhood. In view of its proven effectiveness in such cases, propranolol is the drug of choice. We present the case of a male infant who started treatment with propranolol shortly after birth due to heart disease. After 7 months, when the patient had suffered various respiratory exacerbations, this treatment was suspended. One week later, multiple skin lesions (ie, multifocal infantile hemangiomas) began to appear, with no extracutaneous involvement. It was decided to resume treatment with propranolol, although at lower doses than before, and the skin lesions improved rapidly, with some disappearing completely. Treatment was definitively withdrawn at age 16 months, with only slight recurrence of the lesions. The case described is of multifocal infantile hemangiomas without extracutaneous involvement appearing beyond the neonatal period after treatment with propranolol beginning in the first days of life. The details of the case support the hypothesis that this drug is not only therapeutic but also plays a prophylactic role against infantile hemangiomas. In turn, this supports the recent proposal that this drug may be useful in preventing the growth and spread of tumors with high angiogenic potential. It is postulated that the inhibition of β-adrenergic receptors is associated with multiple intracellular processes related to the progression and metastasis of different tumors.

  8. Use of propranolol in infantile haemangiomas: report of five cases and review of the literature

    PubMed Central

    Gidaris, D; Economou, M; Hatzidemetriou, V; Gombakis, N; Athanassiou - Metaxa, M

    2011-01-01

    Infantile haemangiomas are common benign tumours that do not require treatment unless they cause significant functional impairment or disfigurement. We report our experience with the off-label use of propranolol in 5 children with haemangiomas and review the relevant literature. PMID:21607042

  9. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    PubMed Central

    Saitsu, Hirotomo; Akita, Tenpei; Tohyama, Jun; Goldberg-Stern, Hadassa; Kobayashi, Yu; Cohen, Roni; Kato, Mitsuhiro; Ohba, Chihiro; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi

    2015-01-01

    The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effects on neuronal activity are yet unknown. We searched whole exome sequencing data of a total of 437 patients with infantile epilepsy, and found novel de novo heterozygous missense KCNB1 mutations in two patients showing psychomotor developmental delay and severe infantile generalized seizures with high-amplitude spike-and-wave electroencephalogram discharges. The mutation located in the channel voltage sensor (p.R306C) disrupted sensitivity and cooperativity of the sensor, while the mutation in the channel pore domain (p.G401R) selectively abolished endogenous Kv2 currents in transfected pyramidal neurons, indicating a dominant-negative effect. Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages. Thus KCNB1 mutations can be a rare genetic cause of infantile epilepsy, and insufficient firing of pyramidal neurons would disturb both development and stability of neuronal circuits, leading to the disease phenotypes. PMID:26477325

  10. Nitrazepam for refractory infantile spasms and the Lennox-Gastaut syndrome.

    PubMed

    Chamberlain, M C

    1996-01-01

    Infantile spasms and the Lennox-Gastaut syndrome are considered to be age-specific pediatric epileptic syndromes and together constitute a significant percentage of medically resistant seizures in childhood. Twenty children, ages 4 to 28 months (median, 12 months), with medically refractory infantile spasms or the Lennox-Gastaut syndrome, were treated with the investigational benzodiazepine nitrazepam in an open-label study. Daily dosage of nitrazepam ranged from 0.5 to 3.5 mg/kg, with a median dosage of 1.5 mg/kg, divided into two doses per day. Side effects included pooling of oral secretions (12 children) and sedation (six children); however, no serious side effects were seen. Responses to nitrazepam were as follows: five complete responses (cessation of all seizures), seven partial responses (greater than 50% reduction of seizures), and eight with no response. Median duration of response was 9 months (range, 4 to 16 months) in children with infantile spasms and 14 months (range, 8 to 26 months) in children with the Lennox-Gastaut syndrome. Nitrazepam is an effective anticonvulsant in this small cohort of children with medically refractory infantile spasms and the Lennox-Gastaut syndrome, resulting in a 25% response rate and only modest side effects.

  11. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  12. Positron emission tomography findings in children with infantile spasms and autism.

    PubMed

    Dilber, Cengiz; Calışkan, Mine; Sönmezoğlu, Kerim; Nişli, Serap; Mukaddes, Nahit Motavalli; Tatlı, Burak; Aydınlı, Nur; Ekici, Barış; Özmen, Meral

    2013-03-01

    The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination. Mean patient age (± standard error, SE) varied between 3 years and 16 years (7.8 ± 4 years), while the mean follow-up time (±SE) varied between 2 years and 16 years (average: 7.1 ± 4 years). Autism was present in 11 patients with symptomatic spasms and in four patients with cryptogenic spasms (p=0.009). On the PET scans of the 15 patients with autism, 13 (86.7%) had significantly decreased metabolic activity in the temporal lobe (p<0.001), nine (60%) had significantly decreased activity in the frontal lobe (p=0.004), and seven (46.7%) had significantly decreased activity in the parietal lobe (p=0.022). In our opinion, hypometabolism in the frontal and parietal lobes, in addition to that previously reported in the temporal lobe, plays a role in the development of autism in patients with infantile spasms.

  13. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  14. Incidence of distal femoral and distal tibial deformities in infantile and adolescent blount disease.

    PubMed

    Myers, Thomas G; Fishman, Michael K; McCarthy, James J; Davidson, Richard S; Gaughan, John

    2005-01-01

    The purpose of this study was to assess distal femoral and tibial deformity in patients with infantile and adolescent Blount disease. This was a retrospective review of patients at the authors' institution diagnosed with Blount disease. Thirty-eight patients (21 in the infantile group and 17 in the adolescent group) met the study criteria. Measurements of the anatomic lateral distal femoral angle (aLDFA), anatomic lateral distal tibial angle (aLDTA), and tibiofemoral angle (TFA) were made from long-leg radiographs. The results of the infantile and adolescent measurements were compared with each other and to a normal database. Intraobserver and interobserver error was determined. The adolescent aLDFA measurements were significantly greater (more varus) than for the infantile group and normal database. The aLDTA (ankle) measurements were not statistically different between the two groups, or from the normal database. Analysis of both intraobserver and interobserver error for the aLDFA and aLDTA showed good reliability.

  15. Oral propranolol therapy for infantile hemangiomas beyond the proliferation phase: a multicenter retrospective study.

    PubMed

    Zvulunov, Alex; McCuaig, Catherine; Frieden, Ilona J; Mancini, Anthony J; Puttgen, Kate B; Dohil, Magdalene; Fischer, Gayle; Powell, Julie; Cohen, Bernard; Ben Amitai, Dan

    2011-01-01

    Pharmacological therapies for infantile hemangiomas were considered effective only during the proliferative phases. Recently reported beneficial effects of propranolol may extend beyond the proliferative phase of infantile hemangiomas. The purpose of the study was to assess the effect of oral propranolol therapy for infantile hemangiomas beyond the proliferative phase of these lesions. Members of the Society for Pediatric Dermatology were invited to participate in a multicenter retrospective study. Only children with infantile hemangiomas with documented cessation of lesions' growth or those older than 12 months of age were eligible for the study. Clinical and demographic information and digital photographs before, at the start, and following the treatment were collected. Scaled panels of photographs were distributed among preselected experienced pediatric dermatologists. Visual analog scale was used to assess photographs for each case. Paired t-test was used for statistical analyses. Data on 49 eligible patients from eight pediatric dermatology centers was collected. Seven cases were excluded because of insufficient photographic documentation. The age of the patients at the start of propranolol therapy ranged 7 to 120 months (mean 28 mos, median 22 mos). The duration of propranolol therapy ranged 1 to 8 months (mean 3.6 mos). The mean visual analog scale score before the treatment was 6.8 ± 2.15, and mean reduction in the visual analog scale score at the assessment was 2.6 ± 1.74 (p < 0.001). The rate of visual analog scale reduction was 0.4 per month before the start of the therapy, while this rate was accelerated to 0.9 per months following the therapy (p < 0.001). No significant side effects were reported. We conclude that propranolol is effective in infantile hemangiomas, including post-proliferative phase, and should be considered as the first-line therapy in that setting.

  16. Foraminotomia cervical posterior en el tratamiento de conflictos foraminales

    PubMed Central

    Campero, Álvaro; Barrera, Ramiro; Ajler, Pablo

    2012-01-01

    Introducción: La foraminomotima cervical posterior es un procedimiento utilizado para la descompresion radicular por via posterior y constituye una alternativa a la via clásica anterior. En este trabajo evaluamos nuestra serie de pacientes tratados por esta via. Método: Desde enero de 2008 a diciembre de 2011, 17 pacientes (18 foraminotomías) fueron operados por presentar cervicobraquialgia a causa de un conflicto foraminal, realizando un foraminotomía cervical posterior. Los pacientes fueron evaluados en el postoperatorio inmediato, al mes y a los 3 meses de la cirugía. Los parámetros para valorar los resultados fueron la Escala Análoga del Dolor (VAS), la Neck Disability Index y los criterios de Odom. Resultados: El dolor radicular por conflicto foraminal secundario a hernia de disco cervical fue el síntoma y la patología predominante. El nivel más afectado fue C5-C6. La resolución completa del dolor radicular se observó en casi todos los pacientes. La VAS preoperatoria en promedio fue de 8.8 (mínimo 8 – máximo 10), con una franca mejoría en todos los casos (0.4 en el último control). La media en la Neck Disability Index al inicio fue de 35.3 (mínimo 32 – máximo 45), con una evolución favorable en la evaluación final (0.6). Los Criterios de Odom para la evaluación de pacientes operados de columna cervical fueron satisfactorios con un promedio de 1.17. Se observaron complicaciones en 4 pacientes (23%), todas tuvieron una evolución favorable. No hubo infecciones, discitis ni empeoramiento de los síntomas preexistentes en ningún paciente. Conclusión: La foraminotomía cervical posterior es un procedimiento efectivo para el tratamiento del dolor radicular en los conflictos foraminales PMID:23596556

  17. Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.

    PubMed

    Riikonen, Raili Sylvia; Wallden, Tiina; Kokkonen, Hannaleena

    2016-01-01

    Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. The daughter and mother with infantile spasms, and the autistic son had the duplication. The clinical course of infantile spasms was very similar in the mother and daughter. The spasms were primarily considered to be of unknown aetiology. Chromosomal microarray analysis revealed a 6.2 Mb size 15q11.2q13.1 duplication. The duplication belongs to the 15q11q13 duplication syndrome (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like autism, hypotonia, cognitive deficit, language delay and epilepsy. The proportion of patients with unknown aetiology for infantile spasms will decrease when more careful chromosomal studies are made. Our report expands the phenotype of chromosome 15q duplication syndrome and is the first report of this abnormality in two successive generations of infantile spasms.

  18. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

    PubMed Central

    Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J.; McLean, Rebecca J.; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P.; Moore, Anthony T.; Hunter, David G.; Hertle, Richard W.; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina

    2011-01-01

    Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

  19. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

    PubMed

    Thomas, Mervyn G; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J; McLean, Rebecca J; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P; Moore, Anthony T; Hunter, David G; Hertle, Richard W; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina; Gottlob, Irene

    2011-03-01

    Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

  20. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

    PubMed Central

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Summary Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. Case Report This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Conclusions Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease. PMID:26985245

  1. Osteomyelitis of Maxilla in Infantile With Periorbital Cellulitis: A Case Report.

    PubMed

    Feng, Zhiqiang; Chen, Xufeng; Cao, Fengdi; Lai, Renfa; Lin, Qiang

    2015-10-01

    Infantile osteomyelitis (IO) is an uncommon and life-threatening disease that can be misdiagnosed. Early diagnosis and treatment can reduce the incidence of sequel. In this case report, we present a 25-day-old male infant with apparent edema in the entire left periorbital region. Intraorally, the edema occurred in the mucosa of the upper left alveolar region, and 2 draining fistulas with exuded yellow-white pus were present in the left alveolar region. The patient received constant monitoring after admission, and was diagnosed as IO of the maxilla with periorbital cellulitis and sepsis. He also received incision and drainage and anti-inflammatory treatment. After discharge, the patient was followed up for 3 months by phone call, but no recurrence of symptoms was found. Infantile osteomyelitis is rare in clinic. This case report reminds us of the significance of IO and provides some implications on its diagnosis and treatment.

  2. Substrate reduction therapy in the infantile form of Tay-Sachs disease.

    PubMed

    Bembi, B; Marchetti, F; Guerci, V I; Ciana, G; Addobbati, R; Grasso, D; Barone, R; Cariati, R; Fernandez-Guillen, L; Butters, T; Pittis, M G

    2006-01-24

    Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

  3. [The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

    PubMed

    Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

    2016-05-01

    Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation.

  4. Chronic polioencephalitis with cerebral atrophy in infantile X-linked hypogammaglobulineaemia.

    PubMed Central

    Liwnicz, B H; Marinkovich, V A

    1979-01-01

    The development of a chronic polioencephalitis is reported in a patient with infantile X-linked hypogammaglobulinaemia (IXH Bruton type agammaglobulinaemia). In early childhood, the patient had multiple episodes of purulent inflammation involving the meninges and respiratory tract. He was given continuous administration of gammaglobulin and intermittent treatment with antibiotics, and survived for 21 years. The neuropathological lesion, which revealed severe cerebral atrophy, is described. Images PMID:572414

  5. Propranolol therapy for cutaneous infantile haemangiomas initiated safely as a day-case procedure.

    PubMed

    McSwiney, Edward; Murray, Deirdre; Murphy, Michelle

    2014-01-01

    Propranolol is emerging as the treatment of choice for high-risk infantile haemangiomas. Current protocols recommend overnight admission for initiation of propranolol as well as baseline investigations including electrocardiography (ECG) and echocardiography (ECHO). Our study examined the safety profile of propranolol for the treatment of infantile haemangiomas using a simplified day-case initiation protocol. We evaluated 20 consecutive patients commencing propranolol as a day case for the treatment of an infantile haemangioma over an 18-month period. Investigations were carried out according to our local protocol. Cardiac investigations were not routinely performed. Patients were observed for 2 h following administration of the first dose of propranolol (0.5 mg/kg orally). If no adverse effects were observed, patients were discharged on a daily dose of propranolol of 1 mg/kg, increased to 2 mg/kg on day 4. Patients were reviewed on the day ward on day 8. All haemangiomas requiring treatment were small to moderate in size (median maximum diameter 2.35 cm). Except for capillary blood glucose measurement, no patient required venepuncture for additional blood investigations. As all patients had a normal clinical examination, none required ECHO. An ECG was performed on just one patient. No adverse reactions were observed following administration of propranolol. All patients were discharged home on the same day. No serious adverse events were reported at follow-up. We demonstrate that with targeted cardiac screening, propranolol can be safely initiated on a day-case basis for the treatment of small- to moderate-sized infantile haemangiomas.

  6. Propagation of infantile gastroenteritis virus (orbi-group) in conventional and germfree piglets.

    PubMed

    Middleton, P J; Petric, M; Szymanski, M T

    1975-12-01

    Infantile gastroenteritis virus (orbi-group) recovered from stools of infants with acute nonbacterial gastroenteritis was administered per os to germfree and conventional piglets. Virus was found subsequently in stools and in the mucosal epithelial cells of the small intestine of these animals. Some animals developed diarrhea. Added proof of orbivirus replication was obtained through the use of tritiated uridine injections and the recovery of labeled virus in gut contents at the time of autopsy. Serological conversion was demonstrated in infected germfree piglets.

  7. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

    PubMed

    Wang, Zhaohui; Okamoto, Patricia; Keutzer, Joan

    2014-02-01

    Pompe disease is caused by a deficiency of acid α-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease.

  8. Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

    PubMed Central

    Güzel Nur, Banu; Çelmeli, Gamze; Manguoğlu, Esra; Soyucen, Erdoğan; Bircan, İffet; Mıhçı, Ercan

    2016-01-01

    Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is often missed out or delayed. Hypophosphatasia is classified into subtypes based on the age of onset and clinical features. The clinical severity is associated with the age at diagnosis and the lack of tissue-nonspecific alkaline phosphatase activity; the severe forms of hypophosphatasia are primarily perinatal and infantile forms. Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. Herein, we report the case of an infantile hypophosphatasia patient who presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected. There is a limited number of hypophosphatasia patients with pyridoxine-responsive seizures in the literature, so early diagnosis of infantile hypophosphatasia in the clinically compatible patients allows more effective postnatal care/management and genetic counseling for further pregnancies. PMID:27086862

  9. A New Perspective for Infantile Hepatic Hemangioma in the Age of Propranolol: Experience at Baskent University.

    PubMed

    Sarıalioğlu, Faik; Yazıcı, Nalan; Erbay, Ayşe; Boyvat, Fatih; Demir, Şenay; Özçay, Figen; Uslu, Nihal

    2017-03-01

    Propranolol was first used in 2008 to treat hemangioma; its efficacy and safety have since changed the classical treatment indications. Infantile hepatic hemangioma presents as a spectrum of clinical conditions varying from simple asymptomatic lesions to lethal complications. Tufted hemangioma and Kaposiform hemangioendothelioma are congenital vascular tumors that lead to Kasabach-Merritt syndrome. Hemangiomas, like pure arteriovenous malformations, can cause hyperdynamic heart failure, and diffuse nodular-type hemangiomas can present with hypothyroidism. Respiratory problems and hepatic failure can be associated with diffuse nodular-type liver hemangiomas. There is a spectrum of approaches to management, varying from "watchful waiting" to liver transplant. In the age of propranolol, there has been a prominent change in the infantile hepatic hemangioma treatment algorithm. Our suggestion is early treatment with 3 mg/kg/day propranolol plus 1.0 to1.5 mg/kg/day prednisolone in all patients. This protocol is the most effective strategy for type 3 infantile hepatic hemangioma. Approximately one-third of patients with abdominal compartment syndrome in the era before propranolol treatment required liver transplant; this new treatment obviates transplant for many of these patients.

  10. Extraocular Muscles Tension, Tonus, and Proprioception in Infantile Strabismus: Role of the Oculomotor System in the Pathogenesis of Infantile Strabismus-Review of the Literature.

    PubMed

    Schiavi, Costantino

    2016-01-01

    The role played by the extraocular muscles (EOMs) in the etiology of concomitant infantile strabismus is still debated and it has not yet definitively established if the sensory anomalies in concomitant strabismus are a consequence or a primary cause of the deviation. The commonest theory supposes that most strabismus results from abnormal innervation of the EOMs, but the cause of this dysfunction and its origin, whether central or peripheral, are still unknown. The interaction between sensory factors and innervational factors, that is, esotonus, accommodation, convergence, divergence, and vestibular reflexes in visually immature infants with family predisposition, is suspected to create conditions that prevent binocular alignment from stabilizing and strengthening. Some role in the onset of fixation instability and infantile strabismus could be played by the feedback control of eye movements and by dysfunction of eye muscle proprioception during the critical period of development of the visual sensory system. A possible role in the onset, maintenance, or worsening of the deviation of abnormalities of muscle force which have their clinical equivalent in eye muscle overaction and underaction has been investigated under either isometric or isotonic conditions, and in essence no significant anomalies of muscle force have been found in concomitant strabismus.

  11. El uso de la neuromodulación para el tratamiento del temblor

    PubMed Central

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613

  12. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    PubMed Central

    Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

    2006-01-01

    Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

  13. [Work and health of the Cordoba National University teachers: medicaments/legal drugs use and infantile-maternal plan].

    PubMed

    Giacone, Marta Susana; Costa, Maria Cristina Silva

    2004-01-01

    This study aimed to investigate university teachers in reproductive age--life conditions, work and health process and medicaments use. Beside, aimed research the use, opinions and suggestions of Infantile-Maternal Plan of the University Social Assistance clients. In dialectic and historic materialism theory and method way, this is a social research developed by a strategic and correlative-descriptive fieldwork with 50 persons sample. The results showed degraded work and life conditions, affecting the teachers' health profile and medicaments use. The Infantile-Maternal Plan is good or very good and demands best information accord the teachers in high percent opinion.

  14. Psoriasiform Diaper Rash Possibly Induced by Oral Propranolol in an 18-Month-Old Girl with Infantile Hemangioma

    PubMed Central

    Baggio, Raphaëlle; Le Treut, Claire; Darrieux, Laure; Vareliette, Amélie; Safa, Gilles

    2016-01-01

    Propranolol, a nonselective blocker of β-adrenergic receptors, has become the first-line treatment for complicated infantile hemangiomas. Therefore, its use in the pediatric population has expanded in recent years. In adults, β-blockers have been reported to be the most common causative agents for drug-induced psoriasis. In infants treated with propranolol for infantile hemangioma, the onset of psoriasiform diaper rash has not yet been reported. Here, to the best of our knowledge, we report the first case of psoriasiform diaper rash possibly induced by oral propranolol in an 18-month-old girl with no family history of psoriasis.

  15. Psoriasiform Diaper Rash Possibly Induced by Oral Propranolol in an 18-Month-Old Girl with Infantile Hemangioma.

    PubMed

    Baggio, Raphaëlle; Le Treut, Claire; Darrieux, Laure; Vareliette, Amélie; Safa, Gilles

    2016-01-01

    Propranolol, a nonselective blocker of β-adrenergic receptors, has become the first-line treatment for complicated infantile hemangiomas. Therefore, its use in the pediatric population has expanded in recent years. In adults, β-blockers have been reported to be the most common causative agents for drug-induced psoriasis. In infants treated with propranolol for infantile hemangioma, the onset of psoriasiform diaper rash has not yet been reported. Here, to the best of our knowledge, we report the first case of psoriasiform diaper rash possibly induced by oral propranolol in an 18-month-old girl with no family history of psoriasis.

  16. [The use of the transcranial micropolarization method for decreasing the manifestations of hyperkinesis in patients with infantile cerebral palsy].

    PubMed

    Bogdanov, O V; Pinchuk, D Iu; Pisar'kova, E V; Sheliakin, A M; Sirbiladze, K T

    1993-01-01

    Transcranial micropolarization was used in the treatment of children with hyperkinetic form of infantile cerebral paralysis. The method was found to be more effective than various stereotaxic interventions on the brain or routine physiotherapy. Transcranial micropolarization exposure resulted in alleviation of hyperkinesis, posture-tonic reflexes, in improvement of active movements of the joints, supporting system, etc. Clinical status of patients exposed to this treatment modality improved by six times as against those treated traditionally. Clinical data and data of stimulation electromyography permit us to suggest a possible effect of transcranial micropolarization on the function of cerebral subcortical structures in patients with hyperkinetic form of infantile cerebral paralysis.

  17. The Comparison of the Effects of Massaging and Rocking on Infantile Colic

    PubMed Central

    Nahidi, Fatemah; Gazerani, Nafiseh; Yousefi, Parsa; Abadi, Ali Reza

    2017-01-01

    Introduction: Infantile colic is a painful condition in the first months of infancy. This study was carried out with the aim of testing the hypothesis that massage treatment has a clinically relevant effect on this condition. Materials and Methods: This randomized clinical trial was conducted among 100 infants of < 12 weeks of age with infantile colic. They were randomly assigned to either infant massage (n = 50) or rocking groups (n = 50). In the massage group, trained individuals taught the parents of the infants the massage technique and gave them a brochure. Rocking group parents was recommended to rock their infants three times a day for 1 week. Parents recorded the pattern of crying (numbers, length, and severity of crying). After 1 week of intervention, data were analysed using t-test, Chi square test, and repeated measurement analysis of variance (P < 0.05). Results: Significant differences were not observed in infant and mother demographic information. Before intervention, the mean of total number, length, and severity of crying were 6.12 (1.76) time/day, 4.97 (1.37) hour/day, and 6.60 (1.54) in the massage group and 6.96 (2.9) time/day, 3 (1.31) hour/day, and 5.98 (2.22) in the rocking group, respectively. After 1 week of intervention, the mean difference of total number, length, and severity of crying were 4.08 (1.83) time/day, 2.81 (1.77) hour/day, and 2.9 (2.37) in the massage group and 0.56 (2.28) time/day, 0.27 (1.09) hour/day, and 0.02 (1.64) in the rocking group, respectively. Conclusions: This trial of massage treatment for infantile colic showed statistically significant or clinically relevant effect in comparison with the rocking group. PMID:28382062

  18. Earlier infantile immune maturation is related to higher DTP vaccine responses in children

    PubMed Central

    Strömbeck, Anna; Lundell, Anna-Carin; Nordström, Inger; Andersson, Kerstin; Adlerberth, Ingegerd; Wold, Agnes E; Rudin, Anna

    2016-01-01

    There are large inter-individual variations in vaccine-specific antibody responses in children. We sought to investigate whether early-life environmental factors and/or adaptive immune maturation were related to diphtheria–tetanus–pertussis (DTP) vaccine-specific antibody levels at 18 months of age. In the prospective FARMFLORA birth-cohort, including both farming and non-farming families, children were immunized with DTP vaccine at 3, 5 and 12 months of age. DTP vaccine-induced antibody levels were measured in plasma at 18 months of age. Infants' blood samples obtained at birth, 3–5 days, 4, 18 and 36 months and at 8 years of age were analyzed for total CD4+ T- and B-cell counts, proportions of naïve and memory T and B cells, and fractions of putative regulatory T cells by flow cytometry. Multivariate factor analysis was used to examine associations between immune variables and vaccine responses. The most apparent multivariate pattern was that higher anti-DTP antibody titers at 18 months of age were associated with lower infantile total counts of T and B cells in the blood. Furthermore, lower infantile total T- and B-cell blood counts were associated with higher proportions of circulating CD45RO+ memory T cells and to lower proportions of α4β7+ naïve T cells later in childhood. The multivariate findings were corroborated in univariate correlation analyses. Sex, delivery mode and dairy farm exposure were unrelated to the magnitude of DTP-specific antibody responses. Our results thus suggest that children with a more mature/activated infantile adaptive immunity respond with higher vaccine-induced anti-DTP antibody levels at 18 months of age. PMID:27217956

  19. Earlier infantile immune maturation is related to higher DTP vaccine responses in children.

    PubMed

    Strömbeck, Anna; Lundell, Anna-Carin; Nordström, Inger; Andersson, Kerstin; Adlerberth, Ingegerd; Wold, Agnes E; Rudin, Anna

    2016-03-01

    There are large inter-individual variations in vaccine-specific antibody responses in children. We sought to investigate whether early-life environmental factors and/or adaptive immune maturation were related to diphtheria-tetanus-pertussis (DTP) vaccine-specific antibody levels at 18 months of age. In the prospective FARMFLORA birth-cohort, including both farming and non-farming families, children were immunized with DTP vaccine at 3, 5 and 12 months of age. DTP vaccine-induced antibody levels were measured in plasma at 18 months of age. Infants' blood samples obtained at birth, 3-5 days, 4, 18 and 36 months and at 8 years of age were analyzed for total CD4(+) T- and B-cell counts, proportions of naïve and memory T and B cells, and fractions of putative regulatory T cells by flow cytometry. Multivariate factor analysis was used to examine associations between immune variables and vaccine responses. The most apparent multivariate pattern was that higher anti-DTP antibody titers at 18 months of age were associated with lower infantile total counts of T and B cells in the blood. Furthermore, lower infantile total T- and B-cell blood counts were associated with higher proportions of circulating CD45RO(+) memory T cells and to lower proportions of α4β7(+) naïve T cells later in childhood. The multivariate findings were corroborated in univariate correlation analyses. Sex, delivery mode and dairy farm exposure were unrelated to the magnitude of DTP-specific antibody responses. Our results thus suggest that children with a more mature/activated infantile adaptive immunity respond with higher vaccine-induced anti-DTP antibody levels at 18 months of age.

  20. Long-term impact of infantile short bowel syndrome on nutritional status and growth.

    PubMed

    Olieman, Joanne F; Penning, Corine; Spoel, Marjolein; Ijsselstijn, Hanneke; van den Hoonaard, Thelma L; Escher, Johanna C; Bax, Nikolaas M A; Tibboel, Dick

    2012-05-01

    Short-term bowel adaptation has been documented, but data on long-term effects are scarce. The aim of the present study was to evaluate the long-term consequences of infantile short bowel syndrome (SBS). A cross-sectional assessment (2005-7) of growth, nutritional status, defecation pattern and health status in individuals with a history of infantile SBS, born between 1975 and 2002, were performed. Data were compared with reference values of healthy controls and presented as means and standard deviations or median and ranges. A total of forty subjects (sixteen male and twenty-four female; mean age 14·8 (SD 6·8) years) had received parenteral nutrition during a median of 110 (range 43-2345) d, following small bowel resection. The mean standard deviation scores (SDS) for weight for height and target height (TH) of the children were normal; mean SDS for height for age was - 0·9 (SD 1·3). The median BMI adults was 19·9 (range 17-26) kg/m2; mean SDS for height for age was - 1·0 (range - 2·5 to 1·5). Height in general was significantly shorter than TH, and 53 % of children and 78 % of adults were below TH range. Most subjects had normal body fat percentage (%BF). SDS for total body bone mineral density were generally normal. The SDS for bone mineral content (BMC) of the children were - 1·0 (SD 1·1). Mean energy intake was 91 % of the estimated average requirements. The frequencies of defecation and bowel complaints of the subjects were significantly higher than in healthy controls. In conclusion, infantile SBS results in shorter stature than was expected from their calculated TH. BMC was lower than reference values, but the subjects had normal weight for height and %BF.

  1. Pediatric oncology at Hospital Infantil de Mexico: fifty-five years of accomplishment.

    PubMed

    Medina-Sanson, A; Martínez-Avalos, A; Gallegos-Castorena, S; Juárez-Villegas, L E; González-Montalvo, P; Perales-Arroyo, A; Gallegos-González, E; Ayometzi-Ouchi, M T

    2002-09-01

    The Department of Oncology at Hospital Infantil de México Federico Gómez (HIMFG) was the first unit in our country, and one of the first in Latin America, to specialize in the management of children with cancer. The HIMFG is part of the National Institutes of Health of Mexico, and is a reference hospital with research, educative, and tertiary care medical function. To date, the HIMFG and the Instituto Nacional de Pediatria are the principal medical centers in which children with cancer receive comprehensive care.

  2. Propagation of infantile gastroenteritis virus (orbi-group) in conventional and germfree piglets.

    PubMed Central

    Middleton, P J; Petric, M; Szymanski, M T

    1975-01-01

    Infantile gastroenteritis virus (orbi-group) recovered from stools of infants with acute nonbacterial gastroenteritis was administered per os to germfree and conventional piglets. Virus was found subsequently in stools and in the mucosal epithelial cells of the small intestine of these animals. Some animals developed diarrhea. Added proof of orbivirus replication was obtained through the use of tritiated uridine injections and the recovery of labeled virus in gut contents at the time of autopsy. Serological conversion was demonstrated in infected germfree piglets. Images PMID:1239420

  3. Visual Outcomes and Complications of Piggyback Intraocular Lens Implantation Compared to Aphakia for Infantile Cataract

    PubMed Central

    Joshaghani, Mahmood; Soleimani, Mohammad; Foroutan, Alireza; Yaseri, Mehdi

    2015-01-01

    Purpose: To evaluate the long-term visual outcomes and complications of the piggyback intraocular lens (IOL) implantation compared to aphakia for infantile cataract. Patients and Methods: In a comparative study from 1998 to 2007, piggyback IOL implantation (piggyback IOL group) was performed for 14 infants (23 eyes) with infantile cataract and 20 infants (32 eyes) who were aphakic (aphakia group) after infantile cataract surgery. Data were collected on logMAR visual acuity, and postoperative complications over a mean follow-up time of 6.2 ± 1.7 years and 5.8 ± 1.7 years. Results: The mean age at surgery was 7.5 ± 0.6 months and 6.0 ± 3.3 months for the piggyback and the aphakic group respectively (P > 0.05). At the last follow-up visit, visual acuity was 0.85 ± 0.73 (median = 0.70, interquartile range = 0.3–1.32) in the piggyback IOL group and 0.89 ± 0.56 (median = 0.86, interquartile range = 0.50–1.24) in the aphakic group (P > 0.05). There was a positive relationship between age and visual outcomes in the aphakic group (r = 0.4, P = 0.04) but not in the piggyback IOL group (P = 0.48). There was no significant difference between the mean myopic shift in the piggyback IOL group (∑5.28 ± 1.06 D) and the aphakic group (∑5.10 ± 1.02 D) (P > 0.05). The incidence of reoperation due to complications in piggyback IOL group was higher than aphakic group (%48 vs. %16, respectively, P ≤ 0.01). However, in patients older than 6 months, this risk was not significantly different compared to the aphakic group. Conclusions: Although piggyback IOL implantation for infantile cataract is optically acceptable as a treatment option, there is no significant difference in visual outcomes compared to aphakia. The incidence in reoperation due to complications in patients aged 6 months or younger is higher than those treated with aphakia. PMID:26692724

  4. [Assessment of stress in childhood: Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidiano, IIEC)].

    PubMed

    Trianes Torres, María Victoria; Blanca Mena, María José; Fernández Baena, Francisco J; Escobar Espejo, Milagros; Maldonado Montero, Enrique F; Muñoz Sánchez, Angela María

    2009-11-01

    The present study introduces the Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidianos, IIEC) as a measure that assesses daily stress in primary school children. The inventory was applied to a sample of 1094 primary school students. The final version includes 25 dichotomic items covering the areas of health, school/peers, and family. The score is obtained by adding the total of positive answers. Analyses of items, reliability and several external pieces of evidence of validity based on relations with other variables are presented. The results show adequate psychometric properties for the assessment of daily stress in children.

  5. A Hydrogel-Endothelial Cell implant Mimics Infantile Hemangioma: Modulation by Survivin and the Hippo pathway*

    PubMed Central

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A.

    2015-01-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared to infantile hemaniomas similarities were noted including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2 week time point in our implant model which correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative phase hemangiomas. At the 4 week time point in our implant model only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioma cell tissue culture) may have potential as other beneficial treatments for proliferating infantile hemangiomas

  6. [Children with infantile haemangiomas should be worked-up for PHACE syndrome].

    PubMed

    Bertelsen, Trine; Salskov-Iversen, Maria Luise; Stausbøl-Grøn, Birgitte; Hedelund, Lene

    2013-09-09

    Infantile haemangiomas are the most common tumours in infants. Large facial haemangiomas are associated with posterior fossa malformations, haemangiomas, arteriel malformations, cardiac defects and eye anomalies (PHACE) syndrome in 20-31%. The diagnosis requires a large facial haemangiom and the minimum of one extracutaneous manifestation. Infants with large facial haemangiomas are in risk of PHACE syndrome and need to be referred to paediatric expertise. This case represents an infant with a large facial haemangioma, who was diagnosed with a coarctatio aortae and hence the PHACE syndrome.

  7. A hydrogel-endothelial cell implant mimics infantile hemangioma: modulation by survivin and the Hippo pathway.

    PubMed

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A

    2015-07-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels, and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared with infantile hemangiomas, similarities were noted, including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase, mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP, and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2-week time point in our implant model that correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative-phase hemangiomas. At the 4-week time point in our implant model, only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional-phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioendothelioma cell tissue culture) may have potential as other beneficial treatments for proliferating

  8. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    PubMed

    Hitomi, Yuki; Heinzen, Erin L; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A; McMahon, Jacinta M; Berkovic, Samuel F; Scheffer, Ingrid E; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B; Van Bogaert, Patrick; Depondt, Chantal

    2013-09-01

    We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients.

  9. Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy

    PubMed Central

    Hitomi, Yuki; Heinzen, Erin L.; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A.; McMahon, Jacinta M.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B.; Van Bogaert, Patrick; Depondt, Chantal

    2013-01-01

    We identified a small family with autosomal recessive, infantile-onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients. PMID:23686771

  10. A handheld wireless device for diffuse optical spectroscopic assessment of infantile hemangiomas

    NASA Astrophysics Data System (ADS)

    Fong, Christopher J.; Flexman, Molly; Hoi, Jennifer W.; Geller, Lauren; Garzon, Maria; Kim, Hyun K.; Hielscher, Andreas H.

    2013-03-01

    Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. With no objective tool to monitor IH, a handheld wireless device (HWD) that uses diffuse optical spectroscopy has been developed for use in assessment of IH by measurements in absolute oxygenated and deoxygenated hemoglobin concentration as well as scattering in tissue. Reconstructions of these variables can be computed using a multispectral evolution algorithm. We validated the new system by experimental studies using phantom experiments and a clinical study is under way to assess the utility of DOI for IH.

  11. Hypofibrinogenemia caused by adrenocorticotropic hormone for infantile spasms: a case report.

    PubMed

    Kamei, Atsushi; Araya, Nami; Akasaka, Manami; Mizuma, Kanako; Asami, Maya; Tanifuji, Sachiko; Chida, Shoichi

    2015-01-01

    We report the case of a 7-month-old boy who developed hypofibrinogenemia (66.6 mg/dL; reference value, 170-405 mg/dL) during adrenocorticotropic hormone (ACTH) therapy for infantile spasms. Although the patient showed no clinical signs of a bleeding diathesis, we recommend that plasma fibrinogen levels should be monitored during ACTH therapy, which should be discontinued when fibrinogen levels fall below hemostatic levels (60.0mg/dL) or when bleeding tendencies are recognized.

  12. Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: a randomised controlled trial

    PubMed Central

    Jung, Michael Wilhelm; Landenberger, Margarete; Jung, Tatjana; Lindenthal, Thorsten; Philippi, Heike

    2017-01-01

    [Purpose] Physical therapy is an acknowledged and frequently applied method for infantile postural asymmetry. However, there is not yet sufficient evidence for its effectiveness. [Subjects and Methods] In a randomised controlled trial, the effect of Vojta therapy versus Neurodevelopmental treatment is assessed in infants with postural asymmetry. 65 infants with postural asymmetry were recruited. 37 infants aged six to eight weeks (mean 7.38) were found to be eligible and randomly assigned to two groups, with 19 receiving Vojta and 18 Neurodevelopmental treatment. Using a standardised and blinded video-based assessment, we documented restriction in head rotation and convexity of the spine in prone and supine position before and after therapy. A reduction of at least four points (range of scale 20 points) in postural asymmetry was regarded as a clinically relevant change. [Results] On average a four-point reduction was achieved in both groups within eight weeks. A mean difference (pre-post) between the groups of −2.96 points in favour of Vojta therapy was observed. [Conclusion] While both Neurodevelopmental treatment and Vojta are effective in the treatment of infantile postural asymmetry and comparably well applied by the parents, therapeutic effectiveness is significant greater within the Vojta group. PMID:28265162

  13. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

    PubMed

    Jain-Ghai, Shailly; Nagamani, Sandesh C Sreenath; Blaser, Susan; Siriwardena, Komudi; Feigenbaum, Annette

    2011-01-01

    Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life. However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception. ARG1 deficiency usually presents later in life with spasticity, seizures, failure to thrive and developmental regression. Neonatal and early infantile presentation of ARG1 deficiency with severe hyperammonemia remains rare and only six such cases have been described. We report a severely affected infant with ARG1 deficiency who presented at 6 weeks of age with lethargy, poor feeding and severe encephalopathy caused by hyperammonemia. The clinical and biochemical features of the proband and six other previously reported cases with neonatal or infantile-onset presentation of ARG1 deficiency with hyperammonemia are reviewed. In addition, the clinical spectrum of seven previously unpublished patients with later onset ARG1 deficiency, who also experienced recurrent hyperammonemia, is presented. Several biochemical abnormalities have been postulated to play a role in the pathogenesis of the neurological changes in ARG1 deficiency including hyperargininemia, elevated guanidino compounds and elevated glutamine levels, as well as the hyperammonemia. The index case demonstrated many of these. The cases reviewed here suggest a genotype/phenotype correlation and advocate for the addition of arginine as a primary target in newborn screening programs.

  14. Glucose transporter 1-positive endothelial cells in infantile hemangioma exhibit features of facultative stem cells

    PubMed Central

    Huang, Lan; Nakayama, Hironao; Klagsbrun, Michael; Mulliken, John B.; Bischoff, Joyce

    2014-01-01

    Endothelial glucose transporter 1 (GLUT1) is a definitive and diagnostic marker for infantile hemangioma (IH), a vascular tumor of infancy. To date, GLUT1-positive endothelial cells in IH have not been quantified nor directly isolated and studied. We isolated GLUT1-positive and GLUT1-negative endothelial cells from IH specimens and characterized their proliferation, differentiation and response to propranolol, a first-line therapy for IH, and to rapamycin, an mTOR pathway inhibitor used to treat an increasingly wide array of proliferative disorders. Although freshly isolated GLUT1-positive cells, selected using anti-GLUT1 magnetic beads, expressed endothelial markers CD31, VE-Cadherin and VEGFR2, they converted to a mesenchymal phenotype after three weeks in culture. In contrast, GLUT1-negative endothelial cells exhibited a stable endothelial phenotype in vitro. GLUT1-selected cells were clonogenic when plated as single cells and could be induced to re-differentiate into endothelial cells, or into pericyte/smooth muscle cells or into adipocytes, indicating a stem cell-like phenotype. These data demonstrate that, although they appear and function in the tumor as bona fide endothelial cells, the GLUT1-positive endothelial cells display properties of facultative stem cells. Pretreatment with rapamycin for 4 days significantly slowed proliferation of GLUT1-selected cells, whereas propranolol pretreatment had no effect. These results reveal for the first time the facultative nature of GLUT1-positive endothelial cells in infantile hemangioma. PMID:25187207

  15. Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.

    PubMed

    Chamlin, Sarah L; Mancini, Anthony J; Lai, Jin-Shei; Beaumont, Jennifer L; Cella, David; Adams, Denise; Drolet, Beth; Baselga, Eulalia; Frieden, Ilona J; Garzon, Maria; Holland, Kristin; Horii, Kimberly A; Lucky, Anne W; McCuaig, Catherine; Metry, Denise; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Siegel, Dawn; Haggstrom, Anita N

    2015-06-01

    Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information. The dimensionality of the items was evaluated using factor analysis, with results suggesting four factors: child physical symptoms, child social interactions, parent emotional functioning, and parent psychosocial functioning. Each factor fit the Rasch measurement model with acceptable fit index (mean square <1.4) and demonstrated excellent internal consistency, with alpha ranging from 0.76 to 0.88. The final instrument consists of four scales with a total of 29 items. Content validity was verified by analyzing parents' responses to an open-ended question. Test-retest reliability at a 48-hour interval was supported by a total IH-QoL intraclass correlation coefficient of 0.84. Certain clinical characteristics of hemangioma, including those located on the head and neck, in the proliferative stage, and requiring treatment, are associated with a greater impact on QoL.

  16. Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: a randomised controlled trial.

    PubMed

    Jung, Michael Wilhelm; Landenberger, Margarete; Jung, Tatjana; Lindenthal, Thorsten; Philippi, Heike

    2017-02-01

    [Purpose] Physical therapy is an acknowledged and frequently applied method for infantile postural asymmetry. However, there is not yet sufficient evidence for its effectiveness. [Subjects and Methods] In a randomised controlled trial, the effect of Vojta therapy versus Neurodevelopmental treatment is assessed in infants with postural asymmetry. 65 infants with postural asymmetry were recruited. 37 infants aged six to eight weeks (mean 7.38) were found to be eligible and randomly assigned to two groups, with 19 receiving Vojta and 18 Neurodevelopmental treatment. Using a standardised and blinded video-based assessment, we documented restriction in head rotation and convexity of the spine in prone and supine position before and after therapy. A reduction of at least four points (range of scale 20 points) in postural asymmetry was regarded as a clinically relevant change. [Results] On average a four-point reduction was achieved in both groups within eight weeks. A mean difference (pre-post) between the groups of -2.96 points in favour of Vojta therapy was observed. [Conclusion] While both Neurodevelopmental treatment and Vojta are effective in the treatment of infantile postural asymmetry and comparably well applied by the parents, therapeutic effectiveness is significant greater within the Vojta group.

  17. Treatment of infantile spasms in tuberous sclerosis complex: dismal outcomes but future hope?

    PubMed

    Ess, Kevin C

    2009-02-01

    This commentary discusses a retrospective study by Muzykewicz et al. that details EEG results from children with infantile spasms in the setting of tuberous sclerosis complex (TSC). In this study, several factors were identified as being predictive of poor cognitive outcome, including worsening degree of hypsarrhythmia, abnormalities in EEG background activity, and incomplete response to vigabatrin. Notably, the majority of patients had a poor outcome, experiencing cognitive impairment and intractable epilepsy irrespective of whether they were treated with adrenocorticotropic hormone (corticotropin) or vigabatrin, despite the fact that vigabatrin has shown promise in previous studies. However, among the entire cohort a third of patients enjoyed greater than 1 year of seizure freedom and about a quarter had either mild or no cognitive impairment at follow-up. Overall, these findings underscore the great challenges that are faced in the treatment of infantile spasms in patients with TSC. I suggest that, while vigabatrin has been shown to have impressive short-term efficacy, the intractable seizures and cognitive impairment in many patients with TSC strongly indicate that new therapies and treatment strategies are urgently needed.

  18. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    PubMed

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  19. A novel mutation in COQ2 leading to fatal infantile multisystem disease.

    PubMed

    Jakobs, Bernadette S; van den Heuvel, Lambert P; Smeets, Roel J P; de Vries, Maaike C; Hien, Steffen; Schaible, Thomas; Smeitink, Jan A M; Wevers, Ron A; Wortmann, Saskia B; Rodenburg, Richard J T

    2013-03-15

    Coenzyme Q10 (ubiquinone or CoQ10) serves as a redox carrier in the mitochondrial oxidative phosphorylation system. The reduced form of this lipid-soluble antioxidant (ubiquinol) is involved in other metabolic processes as well, such as preventing reactive oxygen species (ROS) induced damage from the mitochondrial membrane. Primary coenzyme Q10 deficiency is a rare, autosomal recessive disorder, often presenting with neurological and/or muscle involvement. Until now, five patients from four families have been described with primary coenzyme Q10 deficiency due to mutations in COQ2 encoding para-hydroxybenzoate polyprenyl transferase. Interestingly, four of these patients showed a distinctive renal involvement (focal segmental glomerular sclerosis, crescentic glomerulonephritis, nephrotic syndrome), which is only very rarely seen in correlation with mitochondrial disorders. The fifth patient deceases due to infantile multi organ failure, also with renal involvement. Here we report a novel homozygous mutation in COQ2 (c.905C>T, p.Ala302Val) in a dizygotic twin from consanguineous Turkish parents. The children were born prematurely and died at the age of five and six months, respectively, after an undulating disease course involving apneas, seizures, feeding problems and generalized edema, alternating with relative stable periods without the need of artificial ventilation. There was no evidence for renal involvement. We would like to raise awareness for this potentially treatable disorder which could be under diagnosed in patients with fatal neonatal or infantile multi-organ disease.

  20. Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    PubMed Central

    Poulton, Cathryn J.; Schot, Rachel; Kia, Sima Kheradmand; Jones, Marta; Verheijen, Frans W.; Venselaar, Hanka; de Wit, Marie-Claire Y.; de Graaff, Esther; Bertoli-Avella, Aida M.; Mancini, Grazia M.S.

    2011-01-01

    We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mutations in immediate early response 3 interacting protein 1 (IER3IP1) were found in patients from both families. IER3IP1 is highly expressed in the fetal brain cortex and fetal pancreas and is thought to be involved in endoplasmic reticulum stress response. We reported one of these families previously in a paper on Wolcott-Rallison syndrome (WRS). WRS is characterized by increased apoptotic cell death as part of an uncontrolled unfolded protein response. Increased apoptosis has been shown to be a cause of microcephaly in animal models. An autopsy specimen from one patient showed increased apoptosis in the cerebral cortex and pancreas beta cells, implicating premature cell death as the pathogenetic mechanism. Both patient fibroblasts and control fibroblasts treated with siRNA specific for IER3IP1 showed an increased susceptibility to apoptotic cell death under stress conditions in comparison to controls. This directly implicates IER3IP1 in the regulation of cell survival. Identification of IER3IP1 mutations sheds light on the mechanisms of brain development and on the pathogenesis of infantile epilepsy and early-onset permanent diabetes. PMID:21835305

  1. Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

    SciTech Connect

    Zammarchi, E.; Donati, M.A.; Morrone, A.

    1996-08-23

    Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonial, massive edema, a flattened coarse facies. telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient`s fibroblasts, both {alpha}-neuraminidase and {beta}-galactosidase activities were severely reduced, and cathepsin A activity was <1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported early-infantile cases, a normal amount of protective protein/cathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities. 28 refs., 4 figs., 1 tab.

  2. Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers

    PubMed Central

    Dearborn, Joshua T.; Harmon, Steven K.; Fowler, Stephen C.; O’Malley, Karen L.; Taylor, George T.; Sands, Mark S.; Wozniak, David F.

    2015-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse (Cln1−/−) is a useful phenocopy of human INCL. Cln1−/− mice display retinal dysfunction, seizures, motor deficits, and die at ~8 months of age. However, little is known about the cognitive and behavioral functions of Cln1−/− mice during disease progression. In the present study, younger (~1–2 months of age) Cln1−/− mice showed minor deficits in motor/sensorimotor functions while older (~5–6 months of age) Cln1−/− mice exhibited more severe impairments, including decreased locomotor activity, inferior cued water maze performance, decreased running wheel ability, and altered auditory cue conditioning. Unexpectedly, certain cognitive functions such as some learning and memory capabilities seemed intact in older Cln1−/− mice. Younger and older Cln1−/− mice presented with walking initiation defects, gait abnormalities, and slowed movements, which are analogous to some symptoms reported in INCL and parkinsonism. However, there was no evidence of alterations in dopaminergic markers in Cln1−/− mice. Results from this study demonstrate quantifiable changes in behavioral functions during progression of murine INCL and suggest that Parkinson-like motor/sensorimotor deficits in Cln1−/− mice are not mediated by dopamine deficiency. PMID:26238334

  3. Effect of price increase of adrenocorticotropic hormone on treatment practices of infantile spasms.

    PubMed

    Wray, Carter D; Benke, Timothy A

    2010-09-01

    Intramuscular adrenocorticotropic hormone putatively constitutes the most efficacious treatment for infantile spasms. Adrenocorticotropic hormone in the United States is an "orphan drug," made by a single manufacturer. The price of adrenocorticotropic hormone increased almost 14-fold on August 27, 2007. We sought to evaluate the impact of this price increase on treatment practices at our institution, using a retrospective chart review of all children with infantile spasms treated during 2007-2009. We identified 97 patients whose spasms were treated using antiepileptic drugs, and we determined the length of stay for those hospitalized to initiate adrenocorticotropic hormone. Patients before the price increase were more likely to have been treated with adrenocorticotropic hormone as first medication, and were hospitalized 2.2 +/- 0.5 S.D. days for initiation. Patients after the price increase were more likely to have been treated initially with oral antiepileptic drugs rather than adrenocorticotropic hormone (P < 0.002). Those commencing adrenocorticotropic hormone after the price increase were hospitalized significantly longer (5.1 +/- 0.6 days S.D., P < 0.001). Treatment choices need to be evidence-based, but other factors often influence them.

  4. Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.

    PubMed

    Thomas, Mervyn G; Gottlob, Irene

    2012-12-01

    Infantile nystagmus is commonly associated with afferent abnormalities that can be detected using a range of investigative modalities. Optical coherence tomography allows high-resolution in vivo imaging of the retina. Recent studies have shown characteristic foveal abnormalities in patients with albinism, PAX6 mutations, and isolated foveal hypoplasia. Arrested development of the fovea leads to foveal hypoplasia, which causes reduction in visual acuity. Previous studies have shown correlations between visual acuity and the degree of foveal hypoplasia. Furthermore, in achromatopsia a characteristic lesion has been described that is associated with cone photoreceptor degeneration. Patients with achromatopsia also have foveal hypoplasia, however with atypical features. The signs of photoreceptor degeneration were progressive, which suggests that gene therapy is likely to be most beneficial if given within the first few years of life. With the advent of high speed and ultrahigh resolution optical coherence tomography it is now possible to document reliably the stages of foveal development and cone photoreceptor degeneration. This will aid clinicians in diagnosis and predicting prognosis in patients with infantile nystagmus.

  5. EFFECTS OF PRENATAL TESTOSTERONE PROPIONATE AND VINCLOZOLIN ON PERINATAL AND INFANTILE DEVELOPMENT OF MALE AND FEMALE RATS

    EPA Science Inventory

    Effects of Prenatal Testosterone Propionate and Vinclozolin on Perinatal and Infantile Development of Male and Female Rats
    Cynthia Wolf1,2, Jonathan Furr1, Gerald A. LeBlanc2, and L. Earl Gray, Jr.1
    1USEPA, NHEERL, RTD, EB, RTP, NC 27711, 2Dept. of Environmental and Molecu...

  6. Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial

    PubMed Central

    Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

    2015-01-01

    Background & objectives: Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. Methods: This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. Results: The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Interpretation & conclusions: Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1). PMID:26831423

  7. Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2012-01-01

    We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

  8. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  9. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.

    PubMed

    Tütüncüoglu, S; Ozkinay, F; Genel, F; Uran, N; Ozgür, T

    1996-04-01

    In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.

  10. Successful Management of the Masochistic Habit in a Child with Santovuori-Haltia-Hagberg Disease (Infantile Neuronal Ceriod Lipofuscinoses)

    PubMed Central

    Mistry, Laresh N; Hugar, Shivayogi M; Patel, Punit

    2017-01-01

    Self-injurious behaviours are usually related to paediatric patients with mental retardation. The management of such patients is quiet challenging to the paediatric dentists because of the difficulty to communicate with such patients regarding their feelings verbally. Here, we present a case report of successful management of self-injurious behaviour in a child with Infantile Neuronal Ceriod Lipofuscinoses (INCL). PMID:28274078

  11. Orbital infantile myofibroma: a case report and clinicopathologic review of 24 cases from the literature.

    PubMed

    Mynatt, Corey J; Feldman, Kenneth A; Thompson, Lester D R

    2011-09-01

    Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR

  12. Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: Insights from a novel animal model of infantile spasms

    PubMed Central

    Iacobas, D.A.; Iacobas, S.; Chachua, T.; Goletiani, C.; Sidyelyeva, G.; Velíšková, J.; Velíšek, L.

    2013-01-01

    Summary Prenatal exposure to corticosteroids has long-term postnatal somatic and neurodevelopmental consequences. Animal studies indicate that corticosteroid exposure-associated alterations in the nervous system include hypothalamic function. Infants with infantile spasms, a devastating epileptic syndrome of infancy with characteristic spastic seizures, chaotic irregular waves on interictal electroencephalogram (EEG; hypsarhythmia) and mental deterioration, have decreased concentrations of adrenocorticotropic hormone (ACTH) and cortisol in cerebrospinal fluid strongly suggesting hypothalamic dysfunction. We have exploited this feature to develop a model of human infantile spasms by using repeated prenatal exposure to betamethasone and postnatal trigger of developmentally relevant spasms with N-methyl-D-aspartic acid (NMDA). The spasms triggered in prenatally primed rats are more severe compared to prenatally saline-injected ones and respond to ACTH, a treatment of choice for infantile spasms in humans. Using autoradiography and immunohistochemistry, we have identified a link between the spasms in our model and hypothalamus, especially the arcuate nucleus. Transcriptomic analysis of the arcuate nucleus after prenatal priming with betamethasone but before trigger of spasms indicates that prenatal betamethasone exposure down-regulates genes encoding several important proteins participating in glutamatergic and GABAergic transmission. Interestingly, there were significant sex-specific alterations after prenatal betamethasone in synapse-related gene expression but no such sex differences were found in prenatally saline-injected controls. A pair-wise relevance analysis revealed that, although the synapse gene expression in controls was independent of sex, these genes form topologically distinct gene fabrics in males and females and these fabrics are altered by betamethasone in a sex-specific manner. These findings may explain the sex differences in both normal behaviour

  13. Propranolol represses infantile hemangioma cell growth through the β2-adrenergic receptor in a HIF-1α-dependent manner.

    PubMed

    Li, Peng; Guo, Zhengtuan; Gao, Ya; Pan, Weikang

    2015-06-01

    Propranolol, as a non-selective blocker of the β-adrenergic receptor (AR), is utilised as the first-line treatment for infantile hemangiomas. However, the underlying mechanism remains poorly understood. The present study was designed to investigate the molecular basis of propranolol on the regression of infantile hemangiomas using a proliferating infantile hemangioma-derived endothelial cell line. In infantile hemangioma patients, we found that propranolol significantly decreased the expression levels of the hypoxia inducible factor (HIF)-1α in serum and urine, as well as in hemangioma tissues. In vitro analysis revealed that propranolol reduces the expression of HIF-1α in hemangioma cells in a dose- and time-dependent manner, mainly by acting on β2-AR. Interestingly, it was observed that overexpression of HIF-1α apparently abrogated the inhibitory effects of propranolol on vascular endothelial growth factor (VEGF) expression and cell growth. Our data further demonstrated that propranolol inhibited the signal transducer and activator of transcription 3 (STAT3), a critical oncogenic signaling molecule, and the anti-apoptotic protein Bcl-2. Additionally, overexpression of HIF-1α significantly reversed the inhibitory effects of propranolol on STAT3 signaling. In a mouse xenograft hemangioma model, overexpression of HIF-1α significantly attenuated the therapeutic effects of propranolol and inhibited propranolol-induced hemangioma cell apoptosis. Moreover, the protein levels of VEGF, phosphorylated STAT3, total STAT3 and Bcl-2 were significantly upregulated by HIF-1α overexpression in propranolol-treated nude mice bearing hemangiomas. Collectively, our data provide evidence that propranolol may regress infantile hemangiomas by suppressing VEGF and STAT3 signaling pathways in an HIF-1α-dependent manner.

  14. Particularité de la cystinose infantile chez l'enfant tunisien

    PubMed Central

    Jellouli, Manel; Turkia, Hadhami Ben; Abidi, Kamel; Hammi, Yosra; Gargah, Tahar

    2015-01-01

    La cystinose est une maladie rare qui résulte d'un défaut d'expression de la cystinosine transporteur de la cystine du lysosome. La forme infantile est la plus fréquente et la plus sévère. Elle conduit en dehors du traitement à l'insuffisance rénale chronique terminale au cours de la première décade de la vie. Nous rapportons l'expérience tunisienne de la cystinose infantile. Une étude rétrospective sur une période de 25 ans (1990-2014) était menée. Nous avons colligé 8 dossiers de cystinose infantile dans les services de pédiatrie des hôpitaux Charles Nicolle de Tunis et la Rabta de Tunis. Il s'agissait de 5garçons et de 3 filles. L’âge moyen au début des symptômes était de 6,37 mois (2-14 mois). L’âge moyen au moment du diagnostic était de 4 ans (7 mois-6 ans). Les dépôts cornéens de cystine étaient observés chez 7 patients. Sept patients présentaient une hypothyroïdie. La cystéamine était prescrite chez 6 patients. L’âge moyen au moment de la prescription de cystéamine était de 5,12 ans (8 mois- 13 ans). L’âge moyen lors de passage en insuffisance rénale chronique était de 3,4 ans. L’âge moyen lors du passage en insuffisance rénale chronique terminale était de 6,37 ans Actuellement, un patient garde une fonction rénale normale, trois patients sont en insuffisance rénale, deux patients sont décédés et un patient était transplanté. Il faut instaurer dans notre pays les moyens de diagnostic pour traiter tôt la maladie. PMID:26985266

  15. The elusive engram: what can infantile amnesia tell us about memory?

    PubMed

    Callaghan, Bridget L; Li, Stella; Richardson, Rick

    2014-01-01

    Revealing the engram is one of the greatest challenges in neuroscience. Many researchers focus on understanding the cellular and molecular mechanisms underlying the formation and maintenance of the engram, but an underutilized approach has been to investigate analogous processes associated with forgetting. Infant rodents present an ideal model for this purpose because they display a rapid form of non-pathological forgetting known as infantile amnesia (IA). Despite the widespread importance of this interesting phenomenon, the study of the neural bases of IA has remained largely neglected. Here, we consider what IA can tell us about memory. We argue that to understand the mechanisms underlying the engram we must also gain an appreciation of the mechanisms that drive forgetting.

  16. Infantile bisexuality and the 'complete oedipal complex': Freudian views on heterosexuality and homosexuality.

    PubMed

    Heenen-Wolff, Susann

    2011-10-01

    In the psychoanalytical discussion of what is 'mature' sexuality we speak of the 'genital' stage and the 'resolution' of the oedipal complex in the form of identification with the parent of the same sex and a heterosexually-directed object choice. A close reading of Freud's texts about sexuality shows that such a normative view cannot be corroborated by his viewpoint. He suggests that infantile sexuality is bisexually orientated, the final object choice due to repression of either homosexual or heterosexual desires. As Freud puts it, genital heterosexuality occurs out of necessity for procreation. In order to enrich the present psychoanalytical discussion about homosexuality and bisexuality the author returns to Freud's theories in this context.

  17. Acute hemiplegia as a rare presentation of infantile Guillain-Barré syndrome.

    PubMed

    Muthaffar, Osama Y; Mahmoud, Adel A; Al-Saman, Abdulaziz S

    2014-08-01

    Guillain-Barré syndrome (GBS) usually presents in a symmetrical ascending fashion of weakness. We present a 6-month-old male infant who presented to our emergency room with acute left-sided limb weakness and head lag 3 days after a febrile upper respiratory tract infection. A diagnosis of GBS was established by confirming high cerebrospinal fluid protein, motor nerve reduced amplitude, and prolonged conductions, and MRI T2 high signal intensity affecting the ventral roots of the spinal cord. He showed remarkable clinical and neurophysiological improvement after intravenous immunoglobulin and intensive physiotherapy. The occurrence of infantile acute hemiplegia as a presentation of GBS is rare. This report highlights the importance of considering GBS in the differential diagnosis so that early effective treatment may be started.

  18. A practical guide to treatment of infantile hemangiomas of the head and neck

    PubMed Central

    Zheng, Jia Wei; Zhang, Ling; Zhou, Qin; Mai, Hua Ming; Wang, Yan An; Fan, Xin Dong; Qin, Zhong Ping; Wang, Xv Kai; Zhao, Yi Fang

    2013-01-01

    Infantile hemangiomas are the most common benign vascular tumors in infancy and childhood. As hemangioma could regress spontaneously, it generally does not require treatment unless proliferation interferes with normal function or gives rise to risk of serious disfigurement and complications unlikely to resolve without treatment. Various methods for treating infant hemangiomas have been documented, including wait and see policy, laser therapy, drug therapy, sclerotherapy, radiotherapy, surgery and so on, but none of these therapies can be used for all hemangiomas. To obtain the best treatment outcomes, the treatment protocol should be individualized and comprehensive as well as sequential. Based on published literature and clinical experiences, we established a treatment guideline in order to provide criteria for the management of head and neck hemangiomas. This protocol will be renewed and updated to include and reflect any cutting-edge medical knowledge, and provide the newest treatment modalities which will benefit our patients. PMID:24260591

  19. Infantile hemangioma-like vascular lesion in a 26-year-old woman after abortion.

    PubMed

    Lu, Yang; Wang, Shu Jun; Li, Xin; Hu, Li; Zhang, Wen Jie; Li, Wei

    2014-01-01

    A 26-year-old woman (G2P1A1) presented with a 5-week history of multiple red marks on her body after a therapeutic abortion. A physical examination found 15 palpable red marks on her head, neck, chest, arms and legs. Proliferating endothelial cells, which expressed CD31, CD34, von Willebrand factor, but not Glut-1 and merosin, were observed in the lesional area by histopathological analyses. Histocompatibility antigen typing of 2 lesions was identical to a sample from peripheral blood. Accelerated regression was observed in 2 lesions treated by intralesional injection of betamethasone, while spontaneous regression was observed within 9 months in the remaining lesions without any treatment. Rapid growth, spontaneous regression and histological analyses in this case support the diagnosis of 'infantile hemangioma-like vascular lesion'.

  20. Combined distal tibial rotational osteotomy and proximal growth plate modulation for treatment of infantile Blount's disease.

    PubMed

    Abdelgawad, Amr A

    2013-04-18

    Infantile Blount's disease is a condition that causes genu varum and internal tibial torsion. Treatment options include observation, orthotics, corrective osteotomy, elevation of the medial tibial plateau, resection of a physeal bar, lateral hemi-epiphysiodesis, and guided growth of the proximal tibial physis. Each of these treatment options has its disadvantages. Treating the coronal deformity alone (genu varum) will result in persistence of the internal tibial torsion (the axial deformity). In this report, we describe the combination of lateral growth modulation and distal tibial external rotation osteotomy to correct all the elements of the disease. This has not been described before for treatment of Blount's disease. Both coronal and axial deformities were corrected in this patient. We propose this combination (rather than the lateral growth modulation alone) as the method of treatment for early stages of Blount's disease as it corrects both elements of the disease and in the same time avoids the complications of proximal tibial osteotomy.

  1. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

    PubMed

    Prats Viñas, Jose Maria; Martinez Gonzalez, María Jesús; Garcia Ribes, Ainhoa; Martinez Gonzalez, Sonia; Martinez Fernandez, Ricardo

    2005-06-01

    Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

  2. Characteristics of infantile autism in five children with Leber's congenital amaurosis.

    PubMed

    Rogers, S J; Newhart-Larson, S

    1989-10-01

    The behavioral characteristics of five preschool boys with Leber's congenital amaurosis were compared with those of five preschool boys who had been blind from birth from other causes. The boys with Leber's amaurosis met criteria for infantile autism and had remarkably similar developmental histories. They had significantly higher ratings on the Childhood Autism Rating Scale for both frequency and severity of autistic symptoms. The two groups also had different profiles on the Autism Behavior Checklist, the Leber group having a distinctive profile and higher scores. It is suggested that cases of Leber's amaurosis may account for some descriptions in the literature of the co-occurrence of autistic behavior and blindness in children. Deficits in cerebellar structure have been reported in some Leber patients and in some autistic children, which may provide the neurological basis for the behavioral similarities seen in children with Leber's amaurosis and sighted autistic children.

  3. An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

    PubMed

    Plomp, A S; Reardon, W; Benton, S; Taylor, D; Larcher, V F; Sundrum, R; Winter, R M

    2000-07-01

    A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients with Aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition.

  4. Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood

    PubMed Central

    Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

    2010-01-01

    Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death. PMID:21151691

  5. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    SciTech Connect

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M.

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  6. Psychodynamic and behavior modification approaches to the treatment of infantile autism empirical similarities.

    PubMed

    Helm, D

    1976-03-01

    In the treatment of infantile autism, behaviorists emphasize directed behavioral change while psychodynamic therapists tend to focus attention on the worker-child relationship. A review of the literature suggests that both of these aspects of intervention are important, and that both play a role in virtually all therapeutic efforts. The similarities in methods of intervention found in the work of investigators of very different theoretical persuasion raise the possibility that most treatment methods owe more to empirical clinical experience than to their presumed derivation from a theoretical model. This thesis is further examined with respect to a 50-year-old case history by Lightmer Witmer, and the work of the present writer with an 11-year-old autistic boy.

  7. Hypothesis: is infantile autism a hypoglutamatergic disorder? Relevance of glutamate - serotonin interactions for pharmacotherapy.

    PubMed

    Carlsson, M L

    1998-01-01

    Based on 1) neuroanatomical and neuroimaging studies indicating aberrations in brain regions that are rich in glutamate neurons and 2) similarities between symptoms produced by N-methyl-D-aspartate (NMDA) antagonists in healthy subjects and those seen in autism, it is proposed in the present paper that infantile autism is a hypoglutamatergic disorder. Possible future pharmacological interventions in autism are discussed in the light of the intimate interplay between central glutamate and serotonin, notably the serotonin (5-HT) 2A receptor. The possible benefit of treatment with glutamate agonists [e.g. agents acting on the modulatory glycine site of the NMDA receptor, or so-called ampakines acting on the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor] is discussed, as well as the potential usefulness of a selective 5-HT2A receptor antagonist.

  8. First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

    PubMed Central

    Yang, Yong-jia; Hu, Yuan; Zhao, Rui; He, Xinyu; Zhao, Liu; Tu, Ming; Zhou, Lijun; Guo, Jihong; Wu, Linqian; Zhao, Tantai; Zhu, Yi-min

    2015-01-01

    Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population. PMID:25866837

  9. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

    PubMed

    Lee, Hsien-Yang; Huang, Yong; Bruneau, Nadine; Roll, Patrice; Roberson, Elisha D O; Hermann, Mark; Quinn, Emily; Maas, James; Edwards, Robert; Ashizawa, Tetsuo; Baykan, Betul; Bhatia, Kailash; Bressman, Susan; Bruno, Michiko K; Brunt, Ewout R; Caraballo, Roberto; Echenne, Bernard; Fejerman, Natalio; Frucht, Steve; Gurnett, Christina A; Hirsch, Edouard; Houlden, Henry; Jankovic, Joseph; Lee, Wei-Ling; Lynch, David R; Mohammed, Shehla; Müller, Ulrich; Nespeca, Mark P; Renner, David; Rochette, Jacques; Rudolf, Gabrielle; Saiki, Shinji; Soong, Bing-Wen; Swoboda, Kathryn J; Tucker, Sam; Wood, Nicholas; Hanna, Michael; Bowcock, Anne M; Szepetowski, Pierre; Fu, Ying-Hui; Ptáček, Louis J

    2012-01-26

    Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.

  10. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.

    PubMed

    Aizaki, Koichi; Sugai, Kenji; Saito, Yoshiaki; Nakagawa, Eiji; Sasaki, Masayuki; Aoki, Yoko; Matsubara, Yoichi

    2011-02-01

    A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.

  11. Single-plane compensatory phase shift of head and eye oscillations in infantile nystagmus syndrome.

    PubMed

    Anagnostou, Evangelos; Spengos, Konstantinos; Anastasopoulos, Dimitri

    2011-09-15

    A 43-year-old man with infantile nystagmus syndrome complained of "head tremor" that would occur during attempted reading. Three-dimensional, combined eye and head recordings were performed with the magnetic search coil technique in two conditions: 1) looking straight-ahead under photopic conditions without a particular attentional focus and 2) reading a simple text held one meter away. A mainly vertical-horizontal spontaneous nystagmus was evident in both conditions, whereas head nodding emerged in the second condition. The head oscillated only in the vertical plane and concomitant analysis of eye and head displacement revealed a counterphase, compensatory pattern of the first harmonic of the INS waveform. This was verified by the significant negative peak of the crosscorrelogram at zero lag. Eye-in-space (gaze) displacement during nystagmic oscillations was thereby reduced suggesting a central adaptive behavior that may have evolved to partly compensate for the abnormal eye movements during reading.

  12. Infantile Hemangioma Originates From A Dysregulated But Not Fully Transformed Multipotent Stem Cell

    PubMed Central

    Harbi, Shaghayegh; Wang, Rong; Gregory, Michael; Hanson, Nicole; Kobylarz, Keith; Ryan, Kamilah; Deng, Yan; Lopez, Peter; Chiriboga, Luis; Mignatti, Paolo

    2016-01-01

    Infantile hemangioma (IH) is the most common tumor of infancy. Its cellular origin and biological signals for uncontrolled growth are poorly understood, and specific pharmacological treatment is unavailable. To understand the process of hemangioma-genesis we characterized the progenitor hemangioma-derived stem cell (HemSC) and its lineage and non-lineage derivatives. For this purpose we performed a high-throughput (HT) phenotypic and gene expression analysis of HemSCs, and analyzed HemSC-derived tumorspheres. We found that IH is characterized by high expression of genes involved in vasculogenesis, angiogenesis, tumorigenesis and associated signaling pathways. These results show that IH derives from a dysregulated stem cell that remains in an immature, arrested stage of development. The potential biomarkers we identified can afford the development of diagnostic tools and precision-medicine therapies to “rewire” or redirect cellular transitions at an early stage, such as signaling pathways or immune response modifiers. PMID:27786256

  13. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review.

  14. The development of the trabecular meshwork and its abnormality in primary infantile glaucoma.

    PubMed Central

    Anderson, D R

    1981-01-01

    Tissue from ten eyes with infantile glaucoma and from 40 normal eyes of fetuses and infants without glaucoma were examined by light and electron microscopy. In normal development, the corneoscleral coat grows faster than the uveal tract during the last trimester, leading to a posterior migration of the ciliary body attachment from Schwalbe's line (5th month) to the scleral spur (9th month), and then to a location behind the scleral spur (postnatally). In infantile glaucoma, the insertion of the anterior ciliary body and iris overlaps the trabecular meshwork, similar to the late fetal position. The trabecular sheets are perforated, and there is no membrane over the surface of the trabecular meshwork. The trabecular beams are thicker than in normal infant eyes. There is both histologic and clinical evidence of traction on the iris root exerted by the thickened trabecular beams. These findings suggest that in congenital glaucoma the thickened beams had prevented the normal posterior migration of the ciliary body and iris root. This traction may compact the thickened trabecular beams, obstructing aqueous humor outflow. Release of the traction by an incision (goniotomy or trabeculotomy) of the thickened meshwork may relieve the obstruction. Of uncertain pathological significance is that there are no vacuoles in the endothelium of Schlemm's canal and there is a broad layer of collagen and amorphous material in the juxtacanalicular connective tissue. The ciliary processes are elongated inward, as if they were pulled by zonular traction (perhaps created by an enlarging diameter of the limbus with a fixed lens diameter). Images FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 20 A FIGURE 20 B FIGURE 1 FIGURE 3 FIGURE 4 A FIGURE 4 B FIGURE 5 A FIGURE 5 B FIGURE 6 FIGURE 9 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 PMID:7342408

  15. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

    PubMed Central

    Spiegel, Ronen; Saada, Ann; Flannery, Padraig J; Burté, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W; Bindoff, Laurence A; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A; Elpeleg, Orly; Yu-Wai-Man, Patrick

    2016-01-01

    Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. Objective To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Methods We describe a comprehensive clinical, biochemical and molecular genetic investigation of two affected siblings from a consanguineous family. Molecular genetic analysis was done by a combined approach involving genome-wide autozygosity mapping and next-generation exome sequencing. Biochemical analysis was done by enzymatic analysis and Western blot. Evidence for mitochondrial DNA (mtDNA) instability was investigated using long-range and real-time PCR assays. Mitochondrial cristae morphology was assessed with transmission electron microscopy. Results Both affected sisters presented with a similar cluster of neurodevelopmental deficits marked by failure to thrive, generalised neuromuscular weakness and optic atrophy. The disease progression was ultimately fatal with severe encephalopathy and hypertrophic cardiomyopathy. Mitochondrial respiratory chain complex activities were globally decreased in skeletal muscle biopsies. They were found to be homozygous for a novel c.1601T>G (p.Leu534Arg) mutation in the OPA1 gene, which resulted in a marked loss of steady-state levels of the native OPA1 protein. We observed severe mtDNA depletion in DNA extracted from the patients’ muscle biopsies. Mitochondrial morphology was consistent with abnormal mitochondrial membrane fusion. Conclusions We have established, for the first time, a causal link between a pathogenic homozygous OPA1 mutation and human disease. The fatal multisystemic manifestations observed further extend the complex phenotype associated with pathogenic OPA1 mutations, in particular the previously unreported association

  16. The effectiveness of massage therapy in the treatment of infantile colic symptoms: A randomized controlled trial

    PubMed Central

    Sheidaei, Ali; Abadi, Alireza; Zayeri, Farid; Nahidi, Fatemeh; Gazerani, Nafiseh; Mansouri, Anita

    2016-01-01

    Background: Infantile colic, cry-fuss and sleep problems are transient in the initial months of life, but they contribute to maternal depression, parenting stress and family mental health problems. In this randomized clinical trial, we aimed to explore the efficacy of massage therapy compared to rocking in reducing infantile colic symptoms including duration and number of cries, sleep duration and severity of infant colic. Methods: This was a single blind RCT study with a one-week follow-up. One hundred colicky infants aged younger than 12 weeks old were randomly assigned into massage and rocking groups. Infants in the massage group received a massage for 15-20 minutes once during a day and once at night before sleeping for a week. In the control group, mothers rocked their infants gently for 5-25 minutes when the symptoms of colic appeared. Parents recorded the details of the colic symptoms in a diary every day. A GEE approach was applied to explore the effect of the intervention. Results: Efficiency of massage therapy was significantly higher than rocking. At the end of the study, the mean number of daily cries was 4.26±1.40 in the massage and 6.9±2.14 the rocking groups (p<0.01). The mean of the severity score was 1.39±0.19 less in the massage group (p<0.01). Moreover, the mean differences of massage and rocking groups were -0.82±0.20 hour (p<0.01) and 0.72±0.35 (p= 0.04) in the duration of cries and duration of sleep, respectively. Conclusion: Massaging significantly improved colic symptoms during a one-week intervention for all outcomes. In addition, significant differences were found between the intervention and control groups in favor of massaging. Therefore, massage therapy is more effective than rocking for treating infant colic symptoms. PMID:27453882

  17. [Effect of early surgery in essential infantile esotropia on the quality of binocular vision].

    PubMed

    Autrata, R; Hromádková, L; Rehůrek, J

    2002-01-01

    In a retrospective study of 397 children operated in the course of 10 years (1985-1995) on account of essential infantile esotropia the authors evaluate the effect of early surgery implemented before the age of two years on the quality of binocular vision as compared with a later operation. The group of children was divided into three sub-groups. Group A comprised 75 children with the operation during the first six months of life (mean 3.8 months), sub-group B 194 children with the operation at the age of 6-24 months and in group C 128 children operated at the age of 2-6 years (mean 3.56 years). In group A binocular vision was recorded in 80% children (15% superposition, 60% fusion, 5% stereopsy). In groups B binocular vision was recorded in 76% children (18% superposition, 50% fusion, 8% stereopsy). In group C simple binocular vision in the form of superposition was present in 24% and fusion only in 21% children. The results of binocular vision after surgery of essential infantile esotropia are in favour of early surgery, preferably by the age of 6 months, not later than at the age of 2 years. An essential part of comprehensive treatment is active and positive pleoptic and orthoptic care incl. supplementary surgical correction of residual horizontal or vertical deviations. Early surgery of an adequate extent with a safeguarded parallel position of the eyes implies in the long run more frequent achievement of a higher quality of binocular vision incl. stereopsy.

  18. Effectiveness and Safety of Oral Propranolol versus Other Treatments for Infantile Hemangiomas: A Meta-Analysis

    PubMed Central

    Liu, Xiaohan; Qu, Xinhua; Zheng, Jiawei; Zhang, Ling

    2015-01-01

    Background Epidemiological studies evaluating treatments for infantile hemangiomas have produced inconsistent results. A meta-analysis of published data was conducted to investigate the effectiveness and safety of oral propranolol versus other treatments for infantile hemangiomas. Methods A meta-analysis was conducted based on literature (published from 1960 to December 1, 2014) found on the PubMed, EMBASE, and OVID search engines. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for the outcome measures. Heterogeneity, publication bias and subgroup analysis were performed. Results A total of 61 studies involving 5,130 participants met the inclusion criteria. Propranolol was found to be a more effective modality in treating IHs (ORs = 0.92; 95%CI, 0.89–0.95) and had fewer complications compared to the other treatments including systemic steroids (ORs = 0.68; 95% CI, 0.59–0.76); laser ablation (ORs = 0.55; 95% CI, 0.43–0.67); other beta-adrenergic blockers (ORs = 0.56; 95% CI, 0.50–0.61) and surgery (ORs = 0.55; 95% CI, 0.28–0.81). A subgroup analysis of propranolol showed that a dose of 2 mg/kg/day or more yielded better outcomes (ORs = 0.92; 95% CI, 0.88–0.95; ORs = 0.95; 95% CI, 0.89–1.00), and IHs that had not been previously treated had better responses to propranolol treatment (ORs = 0.95; 95% CI, 0.91–0.98). Conclusions The meta-analysis demonstrated that propranolol was more effective and safer than other therapies in treating IHs. It provides strong evidence for supporting the use of propranolol as a first-line therapy for IHs. PMID:26375455

  19. [Lesiones de mucosa bucal. Factores asociados en población infantil].

    PubMed

    Linares-Vieyra, Celia; Meza-Sánchez, Julieta Del Carmen; González-Guevara, Martha Beatriz; Murrieta-Pruneda, José Francisco; Salgado-Rodríguez, Sandra Jessica; Morales-Jaimes, Rosalba

    2013-01-01

    Introducción: la prevalencia de las lesiones de mucosa bucal en los niños varía de 4.1 a 52.6 %, debido a diferencias poblacionales y metodológicas. El objetivo fue identificar la prevalencia de dichas lesiones y su posible asociación con antecedentes patológicos y hábitos parafuncionales en una población infantil, atendida en la clínica dental San Lorenzo Atemoaya. Métodos: estudio descriptivo, retrospectivo y transversal de niños atendidos entre 2006 y 2009. Se obtuvieron las prevalencias de las lesiones y para la asociación entre variables se utilizó regresión logística no condicional. Resultados: de 1228 expedientes, 367 correspondieron a niños, 200 del sexo masculino (54.5 %). La mediana de edad fue de seis años. La prevalencia de las lesiones de la mucosa bucal fue de 66.2 %. Las lesiones más frecuentes fueron la queilitis simple (41.1 %), la mácula melanótica (18.3 %), las petequias (16.9 %) y la úlcera traumática (12 %), sin diferencias entre sexos. La succión labial se asoció con queilitis simple (RM = 1.7, p = 0.013) y onicofagia con úlceras recurrentes (RM = 15.75, p = 0.026). Conclusiones: se observó alta prevalencia de lesiones de mucosa bucal en la población infantil estudiada y se confirma la asociación con hábitos parafuncionales.

  20. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

    PubMed Central

    Scala, E; Ariani, F; Mari, F; Caselli, R; Pescucci, C; Longo, I; Meloni, I; Giachino, D; Bruttini, M; Hayek, G; Zappella, M; Renieri, A

    2005-01-01

    Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appearance of convulsions. In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic midline hand movements. The disease started with generalised convulsions and myoclonic fits at 1.5 months in the first patient and with spasms at 10 days in the other, suggesting a diagnosis of the Hanefeld variant. In these patients, MECP2 point mutations and gross rearrangements were excluded by denaturing high performance liquid chromatography and real time quantitative PCR. The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). Methods: Based on the clinical overlap between the Hanefeld variant and West syndrome, we analysed ARX and CDKL5 in the two girls. Results: We found frameshift deletions in CDKL5 in both patients; one in exon 5 (c.163_166delGAAA) and the other in exon 18 (c.2635_2636delCT). CDKL5 was then analysed in 19 classic Rett and 15 preserved speech variant patients, all MECP2 negative, but no mutations were found. Conclusion: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. PMID:15689447

  1. Infantile Spasms

    MedlinePlus

    ... spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The ... spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The ...

  2. Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

    PubMed

    Diepold, Katharina; Schütz, Barbara; Rostasy, Kevin; Wilken, Bernd; Hougaard, Pia; Güttler, Flemming; Romstad, Anne; Birk Møller, Lisbeth

    2005-06-01

    Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, psychomotor developmental delay, and dystonic posturing of the hands, symptoms that appeared after a viral infection at the age of 14 months. Low homovanillic acid/5-hydroxyindolacetic acid (HVA/5HIAA) ratio in cerebrospinal fluid suggested a TH deficiency. Molecular analysis revealed a novel (H246Y) and a known (D498G) compound heterozygote mutation in the TH gene. The patient showed a remarkable response to treatment with levodopa. The new mutation and the association of viral infections with the onset and worsening of symptoms are discussed.

  3. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

    PubMed

    Tsao, Chang Y; Wenger, Gail D; Bartholomew, Dennis W

    2005-04-15

    Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia.

  4. A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

    PubMed Central

    Voznyi, Y; Keulemans, J; Mancini, G; Catsman-Berrevoet..., C; Young, E; Winchester, B; Kleijer, W; van Diggelen, O P

    1999-01-01

    Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available enzyme assay is complicated and impractical for diagnostic use and is, in practice, unavailable. We have developed a new fluorimetric assay for PPT based on the sensitive fluorochrome 4-methylumbelliferone. This PPT assay is simple, sensitive, and robust and will facilitate the definition of the full clinical spectrum associated with a deficiency of PPT. PPT activity was readily detectable in fibroblasts, leucocytes, lymphoblasts, amniotic fluid cells, and chorionic villi, but was profoundly deficient in these tissues from INCL patients. Similarly, a deficiency of PPT was shown in patients with the variant juvenile NCL with GROD. These results show that rapid pre- and postnatal diagnosis can be performed with this new enzyme assay for PPT.


Keywords: infantile neuronal ceroid lipofuscinosis; CLN1; palmitoyl-protein thioesterase; enzyme analysis PMID:10874636

  5. [The medical and social impact of the gross domestic product on the life expectancy and infantile mortality in Romania].

    PubMed

    Rada, Cornelia; Albu, Adriana; Baciu, Adina; Gavăt, Viorica; Petrariu, F D

    2006-01-01

    In this study we have analyzed the correlations between the GDP reported on every inhabitant and the life expectancy respective the infantile mortality rates. Analysis cover 11 countries, divided in four categories: three former countries members of EU (France, Italy, Sweden), three countries recently admitted (2004) in E.U. (Poland, Slovenia, Hungary), two countries which will join E.U. in 2007 and other three countries none located in Europe (Canada, Japan, USA). In the countries that invest a lot in health care system the life expectancy at birth is bigger that in other countries, but this relation is not a linear one. Infantile mortality in modern society is strongly influenced by the socio-economic status.

  6. Age-Specific Dynamics of Corpus Callosum Development in Children and its Peculiarities in Infantile Cerebral Palsy.

    PubMed

    Krasnoshchekova, E I; Zykin, P A; Tkachenko, L A; Aleksandrov, T A; Sereda, V M; Yalfimov, A N

    2016-10-01

    The age dynamics of corpus callosum development was studied on magnetic resonance images of the brain in children aged 2-11 years without neurological abnormalities and with infantile cerebral palsy. The areas of the total corpus callosum and its segments are compared in the midsagittal images. Analysis is carried out with the use of an original formula: proportion of areas of the anterior (genu, CC2; and anterior part, CC3) and posterior (isthmus, CC6 and splenium, CC7) segments: kCC=(CC2+CC3)×CC6/CC7. The results characterize age-specific dynamics of the corpus callosum development and can be used for differentiation, with high confidence, of the brain of children without neurological abnormalities from the brain patients with infantile cerebral palsy.

  7. Infantile 4-tert-octylphenol exposure transiently inhibits rat ovarian steroidogenesis and steroidogenic acute regulatory protein (StAR) expression

    SciTech Connect

    Myllymaeki, S.A. . E-mail: saanmy@utu.fi; Karjalainen, M.; Haavisto, T.E.; Toppari, J.; Paranko, J.

    2005-08-22

    Phenolic compounds, such as 4-tert-octylphenol (OP), have been shown to interfere with rat ovarian steroidogenesis. However, little is known about steroidogenic effects of infantile OP exposure on immature ovary. The aim of the present study was to investigate the effects of infantile OP exposure on plasma FSH, LH, estradiol, and progesterone levels in 14-day-old female rats. The effect on ovarian steroidogenic acute regulatory protein (StAR) and FSH receptor (FSHr) expression was analyzed by Western blotting. Ex vivo analysis was carried out for follicular estradiol, progesterone, testosterone, and cAMP production. Sprague-Dawley rats were given OP (0, 10, 50, or 100 mg/kg) subcutaneously on postnatal days 6, 8, 10, and 12. On postnatal day 14, plasma FSH was decreased and progesterone increased significantly at a dose of 100 mg OP/kg. In addition, the highest OP dose advanced the time of vaginal opening in puberty. OP had no effect on infantile LH and estradiol levels or ovarian FSHr content. Ovarian StAR protein content and ex vivo hormone and cAMP production were decreased at all OP doses compared to controls. However, hormone levels recovered independent on FSH and even increased above the control level during a prolonged culture. On postnatal day 35, no statistically significant differences were seen between control and OP-exposed animals in plasma FSH, LH, estradiol, and progesterone levels, or in ovarian StAR protein content. The results indicate that the effect of OP on the infantile ovary is reversible, while more permanent effects in the hypothalamus and pituitary, as described earlier, are involved in the reduction of circulating FSH levels and premature vaginal opening.

  8. Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis.

    PubMed

    Hoppe, Bernd; Dittlich, Katalin; Fehrenbach, Henry; Plum, Georg; Beck, Bodo B

    2011-09-01

    The spectrum of primary hyperoxaluria type I is extremely heterogeneous, ranging from singular to recurrent urolithiasis and early end-stage renal disease (ESRD). In infantile oxalosis, the most devastating form, ESRD occurs as early as within the first weeks of life. No kidney replacement therapy sufficiently removes endogenously overproduced oxalate. However, curative combined liver-kidney transplant often is impracticable in small infants. Oxalobacter formigenes (O formigenes), an anaerobic oxalate-degrading bacterium, is a colonizer of the healthy human colon. Oral administration of O formigenes has been shown to significantly decrease urine and plasma oxalate levels in patients with primary hyperoxaluria. We report compassionate use of O formigenes in two 11-month-old girls with infantile oxalosis and ESRD. They received O formigenes twice a day for 4 weeks (or until transplant). Dialysis regimens were unchanged. Plasma oxalate levels decreased from >110 μmol/L before to 71.53 μmol/L under treatment in patient 1 and from >90 to 68.56 μmol/L (first treatment period) and 50.05 μmol/L (second treatment period) in patient 2. O formigenes was well tolerated. No serious side effects were reported. Extremely increased plasma oxalate levels in patients with infantile oxalosis may enable intestinal elimination of endogenous oxalate in the presence of O formigenes. Therefore, O formigenes therapy may be helpful as a bridging procedure until transplant in such patients.

  9. Treatment of infantile spasms with high-dose ACTH: efficacy and plasma levels of ACTH and cortisol.

    PubMed

    Snead, O C; Benton, J W; Hosey, L C; Swann, J W; Spink, D; Martin, D; Rej, R

    1989-08-01

    Fifteen children with infantile spasms and a hypsarrhythmic EEG defined by EEG-videotelemetry monitoring received a regimen of high-dose (150 IU/m2/d) ACTH for their seizures. We carried out an endocrinologic evaluation before and after initiation of the ACTH and conducted a time course study of plasma ACTH and cortisol levels after ACTH dosing. Spasms were controlled and the EEG normalized in 14 of the 15 children. Prior to starting ACTH therapy all the patients had normal prolactin, insulin, cortisol, and ACTH levels in plasma and normal thyroid function. Although the pattern of rise of ACTH levels in plasma after ACTH dosing was similar in all the children, there was great individual variation in the absolute concentrations. However, both the pattern of rise and absolute level of cortisol in plasma after ACTH was highly predictable in all patients. Plasma cortisol rose rapidly within 1 hour of ACTH administration and continued a slower rise for 12 to 24 hours after the ACTH dose. High-dose ACTH therapy seems quite effective in infantile spasms, perhaps because of a sustained high level of plasma cortisol. This sustained plateau of cortisol may be more effective in controlling infantile spasms than the pulse effect expected with oral steroids or lower doses of ACTH.

  10. What becomes of infantile traumatic memories? An adult "wild child" is asked to remember.

    PubMed

    Terr, Lenore C

    2013-01-01

    A severely traumatized child, acting like a wild animal, was removed from her parents at thirteen months of age when her three-week-old sister was found, bitten and shaken to death. (Her father was later convicted of manslaughter and imprisoned.) The older child was also covered with bite marks. When she was twenty-nine months old, this child, whom I call "Cammie," was brought to me from miles away by herfoster parents for once-monthly psychotherapy. I have treated her, stressing abreaction, context, and correction, once a month ever since. When she was five years old Cammie's foster family adopted her. She is now twenty-two. I call her the "wild child" because of the growly voice, vomiting at will, grabbing at the genitalia of strangers, and cruelties to animals that she exhibited after her rescue. Presently she attends college and is training to be a preschool teacher or an aide to pediatricians. I have taken notes on what Cammie says and does during the twenty years she has come to me. In the spring of 2011, I was asked to speak later that year about infantile memories at the Margaret Mahler Symposium, Columbia University, New York. With the organizing committee's approval, I accompanied Cammie and her adoptive mother to the October 1, 2011, meeting and asked her in front of the psychoanalytic audience to recount her oldest remembrances. She, her mother, and I spoke about the nonverbal manifestations of her memory as well. I had briefly prepared Cammie and her mother for our presentation at the Mahler Symposium, but for the most part, it was spontaneous and unrehearsed. Their comments are quoted in this article. At twenty-two the "wild child" reports no verbal memory from her first year. On the other hand, her behaviors, attitudes, and perceptions over the years have reflected what occurred to her and indicate very active nonverbal memories of the traumatic experiences. Fragments of verbal memory that she recounted in therapy between ages two and three have

  11. [Infantile visceral leishmaniasis in the Campania region, Italy: experience from a Paediatric Referral Centre].

    PubMed

    di Martino, L; Gramiccia, M; Occorsio, P; Di Muccio, T; Scalone, A; Gradoni, L

    2004-06-01

    In the first half of the 20th century, visceral leishmaniasis (VL) was a common infantile syndrome in coastal territories of the Campania region of Italy. After World War II, the incidence dropped to a few cases/year for three decades; in late 1980s the disease reemerged among both children and adults. To face the VL recrudescence, a Paediatric Reference Centre was established at the Santobono-Pausilipon hospital in Naples, for the clinical diagnosis, care and drug treatment of all infantile VL cases occurred in the Campania region. Rapid laboratory diagnosis was secured by a Diagnostic Reference Centre established at the Istituto Superiore di Sanità. Here, we report on the epidemiological and parasitological features of all cases referred to the Centre in the past 15 years. From 1990 to March 2004, a total of 255 cases were diagnosed and treated at the Centre. The Figure shows the yearly trend of patients (min. 3 cases in 1990 and 1991, max. 30 cases in 2000). There were 135 males (52.9%); the age ranged 4 months-14 years, but 189 patients (74.1%) were < or = 3 years old. The majority of the patients (189, 74.1%) were from the Naples province, with a cluster of 102 cases (40% of total patients) from the towns and districts surrounding Vesuvius. Twenty-seven cases (10.6%) were from the town of Maddaloni, Caserta province, whereas 15 cases (5.9%) were from coastal villages of the Salerno province. Only 1 and 2 cases were from Benevento and Avellino provinces, respectively. All patients but seven, who have been treated with antimonial drugs in the 1990-1993 period, were successfully treated with a liposomal amphotericin B regimen. From bone-marrow aspirate samples, 138 Leishmania cultures were obtained in EMTM and Sloppy Evans' media, of which 134 have been typed by the electrophoretic analysis of 13 isoenzymes. Two zymodemes (Z) of L. infantum were routinely identified over the study period, ZMON-1 (the commonest zymodeme in the Mediterranean area) and ZMON-72

  12. Propranolol (Hemangiol) and severe infantile haemangiomas. The drug of first choice.

    PubMed

    2015-07-01

    Haemangiomas are benign vascular tumours that generally arise in the skin during the first days of life. They usually grow for a few months before stabilising and regressing over a period of several years, sometimes leaving sequelae. Because of their size or location, some haemangiomas cause: impairment of vital functions (vision, breathing); disfigurement with major problems of self-image; painful skin ulcers; and unsightly scars. When the growth of haemangioma is likely to cause complications, treatment with oral prednisolone at a dose of 2 to 3 mg/kg per day for several months can hasten its regression but carries a risk of numerous adverse effects, including electrolyte disturbances, cardiovascular and musculoskeletal disorders, hypercorticism, behavioural disorders, immunosuppression and growth retardation. Regrowth of the haemangioma sometimes occurs after prednisolone discontinuation. Propranolol, a beta-blocker, has been authorised in the European Union for the treatment of severe infantile haemangiomas, in the form of an oral solution to be used at a dose of 3 mg/kg per day for several months. Two randomised, unblinded trials with low statistical power compared propranolol with prednisolone in respectively 19 and 30 infants treated for several months. No difference in efficacy was observed. Treatment withdrawal seemed less frequent with propranolol. Two randomised, double-blind, placebo-controlled trials tested a 6-month course of propranolol. Propranololled to tumour regression in about half of the infants in one trial but, 17 months after propranolol withdrawal, tumour regrowth occurred in about 40% of the children considered to be in clinical remission. In the other trial, the haemangiomas shrank on average by about 60% with propranolol versus 14% with placebo. The known adverse effects of propranolol differ from those of corticosteroids. They mainly consist of hypoglycaemia, bradycardia, hypotension, bronchospasm, sleep disturbances, and

  13. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

    SciTech Connect

    McDowell, G.A.; Blitzer, M.G. ); Mules, E.H. ); Fabacher, P. ); Shapira, E. )

    1992-11-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the [alpha]-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. 29 refs., 4 figs.

  14. Infantile nystagmus syndrome: Broadening the high-foveation-quality field with contact lenses

    PubMed Central

    Taibbi, Giovanni; Wang, Zhong I; Dell’Osso, Louis F

    2008-01-01

    We investigated the effects of contact lenses in broadening and improving the high-foveation-quality field in a subject with infantile nystagmus syndrome (INS). A high-speed, digitized video system was used for the eye-movement recording. The subject was asked to fixate a far target at different horizontal gaze angles with contact lenses inserted. Data from the subject while fixating at far without refractive correction and at near (at a convergence angle of 60 PD), were used for comparison. The eXpanded Nystagmus Acuity Function (NAFX) was used to evaluate the foveation quality at each gaze angle. Contact lenses broadened the high-foveation-quality range of gaze angles in this subject. The broadening was comparable to that achieved during 60 PD of convergence although the NAFX values were lower. Contact lenses allowed the subject to see “more” (he had a wider range of high-foveation-quality gaze angles) and “better” (he had improved foveation at each gaze angle). Instead of being contraindicated by INS, contact lenses emerge as a potentially important therapeutic option. Contact lenses employ afferent feedback via the ophthalmic division of the V cranial nerve to damp INS slow phases over a broadened range of gaze angles. This supports the proprioceptive hypothesis of INS improvement. PMID:19668758

  15. Retinoblastoma diagnosis: a proposal based on the experience of Centro Infantil Boldrini, Brazil.

    PubMed

    Palazzi, Maristela A; Stephan, Celso; Brandalise, Silvia R; Aguiar, Simone Dos Santos

    2013-08-01

    Advanced disease is a risk factor for eye loss in patients with retinoblastoma (RB). We still record critical rates of enucleation, especially for unilateral RB due to advanced stages of disease at diagnosis. This retrospective study of 223 RB patient records referred to treatment at Centro Infantil Boldrini, Brazil, between 1978 and 2008, showed that 176 patients (79%) presented intraocular tumors while 47 (21%) already had extraocular involvement. At the time of diagnosis, the age of patients was 26.2 months in the group that had enucleated eyes and 13.7 months in the group that preserved both eyes. Under a multiple logistic regression model, familial history (OR = 0.195; p = .01) and age at diagnosis in months (OR = 1.047; p = .04) were significantly correlated with enucleation. Strategies to early detect RB must be changed in order to offer better chances of ocular preservation with visual function. Authors propose a systematic referral of all children to the ophthalmologist for an indirect ophthalmoscopy once a year in the first two years of life, as a measure to be adopted by all pediatricians in daily routine to early detect the tumor.

  16. Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.

    PubMed

    Frydman, M; Jager-Roman, E; de Vries, L; Stoltenburg-Didinger, G; Nussinovitch, M; Sirota, L

    1993-08-01

    We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

  17. Decrease of N-acetylaspartate after ACTH therapy in patients with infantile spasms.

    PubMed

    Maeda, H; Furune, S; Nomura, K; Kitou, O; Ando, Y; Negoro, T; Watanabe, K

    1997-10-01

    Apparent brain atrophy has been frequently observed at CT and MRI after ACTH therapy in patients with infantile spasms. There are several hypotheses to explain ACTH-induced brain shrinkage: 1) a catabolic effect of ACTH on brain tissue, 2) a mineralocorticoid effect resulting in a loss of water and 3) an increase in cerebrospinal fluid (CSF) pressure compressing the brain. An average of 0.21 +/- 0.03 mg/kg of ACTH was administered to nine patients over a period of 14 to 17 days. Water content and concentrations of N-acetylaspartate (NAA), creatine and phosphocreatine (Cr + PCr), and choline (Cho) were measured before, immediately after, and several months after the ACTH therapy by using in-vivo 1H magnetic resonance spectroscopy (MRS). Only NAA concentration exhibited a significant change during the study (6.6 +/- 1.5 mmol/kg, 5.4 +/- 1.1, and 7.0 +/- 1.5, p = 0.017). There was no significant change in Cr + PCr, in Cho, or in water content. These data suggest catabolic effects of ACTH on brain tissue, such as cell loss, decrease in NAA synthesis in mitochondria, and leakage of NAA from cell membrane.

  18. Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

    PubMed

    Singh, Ankur; Faruq, Mohammed; Mukerji, Mitali; Dwivedi, Manish Kumar; Pruthi, Sumit; Kapoor, Seema

    2014-01-01

    Autosomal dominant cerebellar ataxia type I is a heterogeneous group of spinocerebellar ataxias with variable neurologic presentations, with age of onset varying from infancy to adulthood. Autosomal dominant cerebellar ataxia type I is composed mainly of 3 prevalent spinocerebellar ataxia types with different pathogenic loci, specifically spinocerebellar ataxia 1 (6p24-p23), spinocerebellar ataxia 2 (12q24.1), and spinocerebellar ataxia 3 (14q32.1). The shared pathogenic mutational event is the expansion of the CAG repeat that results in polyglutamine extended stretches in the encoded proteins. CAG repeat disorders generally show the phenomenon of anticipation, which is more often associated with paternal transmission. In this report, we describe a patient with infantile-onset spinocerebellar ataxia type 2 (~320 CAG repeat) who inherited the disease from his father (47 CAG repeats). We have summarized the clinical, neuroimaging, electroencephalographic (EEG), and molecular data of previous cases and attempt to highlight the most consistent findings. Our intent is to help treating clinicians to suspect this disorder and to offer timely genetic counseling for a currently potentially untreatable disorder.

  19. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    PubMed

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  20. Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited.

    PubMed

    Wheeler, R B; Schlie, M; Kominami, E; Gerhard, L; Goebel, H H

    2001-11-01

    Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. It was originally described by Jansky in a family of eight children with four of them affected [Jansky J (1908) Sborn Lék 13:165-196] and, subsequently, by Bielschowsky in a family of three children each of whom was affected, and, hence, termed Jansky-Bielschowsky type of NCL. Earlier, archival studies of Bielschowsky's original post-mortem tissue blocks had documented accumulation of autofluorescent lipopigments with a curvilinear ultrastructure. In a subsequent study, described here, immunohistochemical absence of the CLN2-related lysosomal enzyme tripeptidyl peptidase-I and two heterozygous mutations in the CLN2 gene could be demonstrated in these archival tissues, further corroborating the identity of Bielschowsky's familial disorder and CLN2 described by M. Bielschowsky at the beginning of the last century. Furthermore, these immunohistochemical and mutational investigations underscore the value of archival tissue studies.

  1. Glucose transporter 1-positive endothelial cells in infantile hemangioma exhibit features of facultative stem cells.

    PubMed

    Huang, Lan; Nakayama, Hironao; Klagsbrun, Michael; Mulliken, John B; Bischoff, Joyce

    2015-01-01

    Endothelial glucose transporter 1 (GLUT1) is a definitive and diagnostic marker for infantile hemangioma (IH), a vascular tumor of infancy. To date, GLUT1-positive endothelial cells in IH have not been quantified nor directly isolated and studied. We isolated GLUT1-positive and GLUT1-negative endothelial cells from IH specimens and characterized their proliferation, differentiation, and response to propranolol, a first-line therapy for IH, and to rapamycin, an mTOR pathway inhibitor used to treat an increasingly wide array of proliferative disorders. Although freshly isolated GLUT1-positive cells, selected using anti-GLUT1 magnetic beads, expressed endothelial markers CD31, VE-Cadherin, and vascular endothelial growth factor receptor 2, they converted to a mesenchymal phenotype after 3 weeks in culture. In contrast, GLUT1-negative endothelial cells exhibited a stable endothelial phenotype in vitro. GLUT1-selected cells were clonogenic when plated as single cells and could be induced to redifferentiate into endothelial cells, or into pericytes/smooth muscle cells or into adipocytes, indicating a stem cell-like phenotype. These data demonstrate that, although they appear and function in the tumor as bona fide endothelial cells, the GLUT1-positive endothelial cells display properties of facultative stem cells. Pretreatment with rapamycin for 4 days significantly slowed proliferation of GLUT1-selected cells, whereas propranolol pretreatment had no effect. These results reveal for the first time the facultative nature of GLUT1-positive endothelial cells in IH.

  2. Ancestry of pink disease (infantile acrodynia) identified as a risk factor for autism spectrum disorders.

    PubMed

    Shandley, Kerrie; Austin, David W

    2011-01-01

    Pink disease (infantile acrodynia) was especially prevalent in the first half of the 20th century. Primarily attributed to exposure to mercury (Hg) commonly found in teething powders, the condition was developed by approximately 1 in 500 exposed children. The differential risk factor was identified as an idiosyncratic sensitivity to Hg. Autism spectrum disorders (ASD) have also been postulated to be produced by Hg. Analogous to the pink disease experience, Hg exposure is widespread yet only a fraction of exposed children develop an ASD, suggesting sensitivity to Hg may also be present in children with an ASD. The objective of this study was to test the hypothesis that individuals with a known hypersensitivity to Hg (pink disease survivors) may be more likely to have descendants with an ASD. Five hundred and twenty-two participants who had previously been diagnosed with pink disease completed a survey on the health outcomes of their descendants. The prevalence rates of ASD and a variety of other clinical conditions diagnosed in childhood (attention deficit hyperactivity disorder, epilepsy, Fragile X syndrome, and Down syndrome) were compared to well-established general population prevalence rates. The results showed the prevalence rate of ASD among the grandchildren of pink disease survivors (1 in 22) to be significantly higher than the comparable general population prevalence rate (1 in 160). The results support the hypothesis that Hg sensitivity may be a heritable/genetic risk factor for ASD.

  3. Diffuse Infantile Hepatic Hemangioendothelioma With Early Central Enhancement in an Adult

    PubMed Central

    Dong, Aisheng; Dong, Hui; Zuo, Changjing; He, Tianlin

    2015-01-01

    Abstract Infantile hepatic hemangioendothelioma (IHH) is the most common vascular tumor of the liver in infancy. Adult with IHH is extremely rare. We presented a diffuse IHH in an adult patient with computed tomography (CT) and magnetic resonance image (MRI) findings. A 39-year-old man was admitted to our hospital because of a 2-year history of abnormal liver function tests and a 7-day history of jaundice. Physical examination revealed enlarged liver. Unenhanced abdominal CT showed enlargement of the liver with diffuse hypodensity. Enhanced CT on the arterial phase revealed multiple centrally enhanced lesions diffusely involved the enlarged liver. The enhanced areas of the lesions became larger on the portal phase and all the lesions became homogeneous enhanced on the delayed phase. These lesions showed heterogeneously hyperintense on T2-weighted image, hypointense on T1-weighted image, and early centrally enhanced on dynamic gadolinium-enhanced MRI, with complete tumor enhancement after 180 s. The patient underwent orthotopic liver transplantation. IHH type 2 was confirmed by pathology. The patient died of tumor recurrence in the liver 4 months after transplantation. Unlike the previously described imaging appearances of IHH, this case showed diffuse nodules with early central enhancement on CT and MRI. Considering the importance of the ability to differentiate IHH from other hepatic tumors, radiologists should be aware of these imaging appearances to establish knowledge of the entire spectrum of IHH. PMID:26705232

  4. Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci.

    PubMed

    Svenningsson, Anna; Söderhäll, Cilla; Persson, Sofia; Lundberg, Fredrik; Luthman, Holger; Chung, Eddie; Gardiner, Mark; Kockum, Ingrid; Nordenskjöld, Agneta

    2012-02-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common cause of upper gastrointestinal obstruction during infancy. A multifactorial background of the disease is well established. Multiple susceptibility loci including the neuronal nitric oxide synthase (NOS1) gene have previously been linked to IHPS, but contradictory results of linkage studies in different materials indicate genetic heterogeneity. To identify IHPS susceptibility loci, we conducted a genome-wide linkage analysis in 37 Swedish families. In regions where the Swedish material showed most evidence in favor of linkage, 31 additional British IHPS families were analyzed. Evidence in favor of significant linkage was observed in the Swedish material to two loci on chromosome 2q24 (non-parametric linkage (NPL) =3.77) and 7p21 (NPL=4.55). In addition, evidence of suggestive linkage was found to two loci on chromosome 6p21 (NPL=2.97) and 12q24 (NPL=2.63). Extending the material with British samples did not enhance the level of significance. Regions with linkage harbor interesting candidate genes, such as glucagon-like peptide-2 (GLP-2 encoded by the glucagon gene GCG), NOS1, motilin (MLN) and neuropeptide Y (NPY). The coding exons for GLP-2, and NPY were screened for mutations with negative results. In conclusion, we could confirm suggestive linkage to the region harboring the NOS1 gene and detected additional novel susceptibility loci for IHPS.

  5. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

    PubMed

    Zlotogora, J; Furman-Shaharabani, Y; Harris, A; Barth, M L; von Figura, K; Gieselmann, V

    1994-09-01

    Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a founder effect. All the patients were found to be homozygous for 459 + 1 G-->A, a mutation which destroys the splice donor site of exon 2 of the ARSA gene. This mutation has been reported to be the most common mutation causing MLD. We studied the ARSA haplotype defined by three intragenic polymorphic sites in DNA samples from Muslim Arab patients from Jerusalem, a Christian Arab patient originating from the region, and eight other white patients, all homozygous for the 459 + 1 G-->A mutation. All the alleles carried the same haplotype which is in complete linkage disequilibrium with the mutation. This finding indicates a common origin for the 459 + 1 G-->A mutation which may have been introduced into Jerusalem at the time of the Crusades.

  6. Infantile tremor syndrome: A review and critical appraisal of its etiology

    PubMed Central

    Goraya, Jatinder Singh; Kaur, Sukhjot

    2016-01-01

    Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair. Involuntary movements in the form of tremors supervene in the natural course of the illness in a significant number of cases. The disorder occurs in exclusively breast-fed infants of vegetarian mothers belonging to economically deprived sections of society. Most of the children eventually recover but are frequently left with long-term cognitive and language neurodeficits. ITS continues to be seen in clinical practice, but there has been no consensus on its causation. Last comprehensive review was published in 1987 describing the ITS as a syndrome of unknown or multiple etiologies. Several important papers have been published since then. This review attempts to provide comprehensive and up-to-date information on the subject incorporating recently published studies. In the end, the issue of etiology is objectively re-examined in the light of available evidence some of which has been published in recent years. PMID:28217150

  7. Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

    PubMed Central

    Goyal, Manisha; Bijarnia-Mahay, Sunita; Kingsmore, Stephen; Farrow, Emily; Saunders, Carol; Saxena, Renu; Verma, Ishwar C.

    2014-01-01

    Infantile Neuro axonal Dystrophy (INAD), is a rare inherited neurological disorder which affects nerve axons causing progressive loss of mental skills, muscular control and vision. The authors present a case of 5.8-y-old girl with INAD who was diagnosed after Next Generation Sequencing (NGS). She was born to a non-consanguineous couple and presented with hypotonia, developmental delay followed by neuroregression and nystagmus after 2 years of age. On examination, bilateral horizontal nystagmus and normal head circumference were noted. Brain MRI showed cerebellar atrophy and altered signal intensities in bilateral globus pallidi and thalami. Magnetic resonance spectroscopy (MRS) showed elevation of lactate. Metabolic testing with Tandem Mass Spec-trometry (TMS) and Gas Chromatography Mass Spectrometry (GC-MS) were normal. Mitochondrial disorder was suspected in view of clinical presentation, increased lactate and neuro-imaging suggestive of Leigh syndrome. Mitochondrial Leigh mutations and SURF1 gene sequencing yielded normal results. Lack of a clear diagnosis led to performance of NGS using panel of about 514 genes. A homozygous novel mutation at position c.2277-1G>C in PLA2G6 gene presumed to give rise to altered splicing, was detected, thus confirming the diagnosis of INAD. This report provides evidence of the usefulness of NGS technology as a quick and accurate diagnostic tool for an otherwise complicated genetic disease. To the authors knowledge, this is the first case report with mutations in PLA2G6 gene from India. PMID:25348461

  8. Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient.

    PubMed

    Deodato, Federica; Ginocchio, Virginia Maria; Onofri, Alfredo; Grutter, Giorgia; Germani, Alessandro; Dionisi-Vici, Carlo

    2014-06-01

    Infantile Pompe disease, resulting from deficiency of lysosomal acid α-glucosidase, requires enzyme replacement therapy with recombinant human acid α-glucosidase. Most patients develop antirecombinant human acid α-glucosidase antibodies, leading to reduced response to enzyme therapy in a subgroup of them. Aiming to improve treatment response, several immune tolerance induction strategies have been explored. We describe a patient with life-threatening infusion-associated reactions presenting anti-recombinant human acid α-glucosidase antibodies. He was successfully treated with an immune tolerance induction protocol, consisting of plasma exchange combined with a single dose of rituximab. Immediate reduction of antibody titer was obtained and enzyme therapy was resumed without infusion-associated reactions. Twenty-two months later, immunoglobulin G titer remained below 1:100. In conclusion, we applied a short-course immune tolerance induction strategy in a patient with severe infusion-associated reactions and anti-recombinant human acid α-glucosidase antibodies, leading to early and persisting reduction of antibody titer, in the absence of significant adverse events.

  9. Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

    PubMed Central

    Arafat, Ahmed; Jing, Peng; Ma, Yuping; Pu, Miao; Nan, Gai; Fang, He; Chen, Chen; Fei, Yin

    2017-01-01

    Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance. In all cases where parental testing was accessible, Sanger sequencing confirmed the variants and determined the parental origin. In 15% of patients (n = 10/68), we identified nine de novo pathogenic variants, and one assumed de novo pathogenic variant in the following genes: CDKL5 (n = 2), STXBP1 (n = 2), SCN1A (n = 3), KCNQ2 (n = 2), SCN8A (n = 1), four of the variants are novel variants. In 4% patients (n = 3/68), we identified three likely pathogenic variants; two assumed de novo and one X-linked in the following genes: SCN1A (n = 2) and ARX (n = 1), two of these variants are novel. Variants were assumed de novo when parental testing was not available. Our findings were first reported in Han Chinese patients with unexplained EIEE, enriching the EIEE mutation spectrum bank. PMID:28387369

  10. Infantile scurvy: an old diagnosis revisited with a modern dietary twist.

    PubMed

    Burk, Cynthia J; Molodow, Rona

    2007-01-01

    Ascorbic acid (vitamin C) is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. Scurvy, a disease of dietary ascorbic acid deficiency, is uncommon today. Indeed, implementation of dietary recommendations largely eradicated infantile scurvy in the US in the early 1900s. We present a case of an otherwise healthy 2-year-old Caucasian girl who presented with refusal to walk secondary to pain in her lower extremities, generalized irritability, sleep disturbance, and malaise. The girl's parents described feeding the patient an organic diet recommended by the Church of Scientology that included a boiled mixture of organic whole milk, barley, and corn syrup devoid of fruits and vegetables. Physical examination revealed pale, bloated skin with edematous, violaceous gums and loosening of a few of her teeth. Dermatologic findings included xerosis, multiple scattered ecchymoses of the extremities, and perifollicular hemorrhage. Laboratory and radiographic evaluation confirmed the diagnosis of scurvy. The patient showed dramatic improvement after only 3 days of treatment with oral ascorbic acid and significant dietary modification. In this case report, we revisit the old diagnosis of scurvy with a modern dietary twist secondary to religious practices. This case highlights the importance of taking a detailed dietary history when evaluating diseases involving the skin.

  11. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

    PubMed

    Beyer, Kim S; Blasi, Francesca; Bacchelli, Elena; Klauck, Sabine M; Maestrini, Elena; Poustka, Annemarie

    2002-10-01

    Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, such mutations have recently been described in a few autistic patients. In this study, a large sample of individuals with autism was screened in order to elucidate systematically whether specific mutations in MECP2 play a role in autism. The mutation analysis of the coding sequence of the gene was performed by denaturing high-pressure liquid chromatography and direct sequencing. Taken together, 14 sequence variants were identified in 152 autistic patients from 134 German families and 50 unrelated patients from the International Molecular Genetic Study of Autism Consortium affected relative-pair sample. Eleven of these variants were excluded for having an aetiological role as they were either silent mutations, did not cosegregate with autism in the pedigrees of the patients or represented known polymorphisms. The relevance of the three remaining mutations towards the aetiology of autism could not be ruled out, although they were not localised within functional domains of MeCP2 and may be rare polymorphisms. Taking into account the large size of our sample, we conclude that mutations in the coding region of MECP2 do not play a major role in autism susceptibility. Therefore, infantile autism and Rett syndrome probably represent two distinct entities at the molecular genetic level.

  12. Association study with two markers of a human homeogene in infantile autism.

    PubMed Central

    Petit, E; Hérault, J; Martineau, J; Perrot, A; Barthélémy, C; Hameury, L; Sauvage, D; Lelord, G; Müh, J P

    1995-01-01

    Epidemiological data and family studies in autism show that there is a genetic susceptibility factor in the aetiology of this syndrome. We carried out an association study in infantile autism. Two markers of the homeogene EN2 involved in cerebellar development were tested in a population of 100 autistic children and in a population of 100 control children. With the MP4 probe showing a PvuII polymorphism, significant differences in the allele frequencies between the two populations were found (chi 2 = 7.99, df = 1, p < 0.01). With the MP5 probe showing an SstI polymorphism, no difference appeared (chi 2 = 1.17, not significant). Several clinical examinations allowed us to characterise the autistic children. Most of them had high scores for autistic behaviour and language disorders but low scores for neurological syndromes. Two children had a significant family history and six children had confirmed syndromes or diseases of genetic origin. Discriminant analysis between clinical and molecular data did not give significant results. These preliminary results must be supported by further analyses of this gene and by studies of its potential involvement in the pathophysiology of the autistic syndrome. PMID:7643354

  13. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

    PubMed Central

    McDowell, G A; Mules, E H; Fabacher, P; Shapira, E; Blitzer, M G

    1992-01-01

    A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the alpha-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. Images Figure 1 Figure 2 PMID:1307230

  14. Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

    PubMed

    Dinwiddie, Darrell L; Bracken, Julia M; Bass, Julie A; Christenson, Kathy; Soden, Sarah E; Saunders, Carol J; Miller, Neil A; Singh, Vivekanand; Zwick, David L; Roberts, Charles C; Dalal, Jignesh; Kingsmore, Stephen F

    2013-01-01

    Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency genes in both siblings. The siblings were identified to harbor compound heterozygous mutations in IL10RA (c.784C>T, p.Arg262Cys; c.349C>T, p.Arg117Cys). Upon molecular diagnosis, the proband underwent successful hematopoietic stem cell transplantation and demonstrated marked clinical improvement of all IBD-associated clinical symptoms. Exome sequencing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD. We provide additional evidence of the safety and benefit of HSCT for patients with IBD due to mutations in the IL10RA gene.

  15. Oral Propranolol for the Treatment of Periorbital Infantile Hemangioma: A Preliminary Report from Oman

    PubMed Central

    Harikrishna, Beena; Ganesh, Anuradha; Al-Zuahibi, Sana; Al-Jabri, Samia; Al-Waily, Ahmed; Al-Riyami, Adil; Al-Azri, Faisal; Masoud, Feraz; Al-Mujaini, Abdullah

    2011-01-01

    Purpose: To investigate the efficacy and safety of oral propranolol in the management of periorbital infantile hemangioma in four subjects. Materials and Methods: Consecutive patients who presented with periorbital capillary hemangioma with vision-threatening lesions were prospectively enrolled in this study between January 2009 and October 2010. All subjects underwent treatment with 2 mg/kg/day oral propranolol. All subjects underwent ocular, systemic, and radiologic evaluations before treatment and at periodic intervals after starting therapy. Side effects from therapy were also evaluated. Results: Four subjects, between 3 months and 19 months of age, with periorbital hemangioma were enrolled in this study. Two subjects had been previously treated with oral corticosteroids with unsatisfactory response. All subjects had severe ptosis, with the potential for deprivation amblyopia. Three subjects had orbital involvement. After hospital admission, oral propranolol was initiated in all subjects under monitoring by a pediatric cardiologist. Subsequent therapy was performed with periodic out-patient monitoring. All subjects had excellent response to treatment, with regression of periorbital and orbital hemangioma. There were no side effects from therapy. Conclusions: Oral propranolol for periorbital hemangioma was effective in all the four subjects. Oral propranolol may be appropriate for patients who are nonresponsive to intralesional or systemic steroids. In patients with significant orbital involvement and lesions causing vision-threatening complications, oral propranolol can be the primary therapy. PMID:22224018

  16. Endothelial and circulating C19MC microRNAs are biomarkers of infantile hemangioma

    PubMed Central

    Strub, Graham M.; Kirsh, Andrew L.; Whipple, Mark E.; Kuo, Winston P.; Keller, Rachel B.; Kapur, Raj P.; Majesky, Mark W.; Perkins, Jonathan A.

    2016-01-01

    Infantile hemangioma (IH) is the most common vascular tumor of infancy, and it uniquely regresses in response to oral propranolol. MicroRNAs (miRNAs) have emerged as key regulators of vascular development and are dysregulated in many disease processes, but the role of miRNAs in IH growth has not been investigated. We report expression of C19MC, a primate-specific megacluster of miRNAs expressed in placenta with rare expression in postnatal tissues, in glucose transporter 1–expressing (GLUT-1–expressing) IH endothelial cells and in the plasma of children with IH. Tissue or circulating C19MC miRNAs were not detectable in patients having 9 other types of vascular anomalies or unaffected children, identifying C19MC miRNAs as the first circulating biomarkers of IH. Levels of circulating C19MC miRNAs correlated with IH tumor size and propranolol treatment response, and IH tissue from children treated with propranolol or from children with partially involuted tumors contained lower levels of C19MC miRNAs than untreated, proliferative tumors, implicating C19MC miRNAs as potential drivers of IH pathogenesis. Detection of C19MC miRNAs in the circulation of infants with IH may provide a specific and noninvasive means of IH diagnosis and identification of candidates for propranolol therapy as well as a means to monitor treatment response. PMID:27660822

  17. Dynamical properties of the two-process model for sleep-wake cycles in infantile autism.

    PubMed

    Matsuura, Hirotsune; Tateno, Katsumi; Aou, Shuji

    2008-09-01

    The two-process model is a scheme for the timing of sleep that consists of homeostatic (Process S) and circadian (Process C) variables. The two-process model exhibits abnormal sleep patterns such as internal desynchronization or sleep fragmentation. Early infants with autism often experience sleep difficulties. Large day-by-day changes are found in the sleep onset and waking times in autistic children. Frequent night waking is a prominent property of their sleep. Further, the sleep duration of autistic children is often fragmented. These sleep patterns in infants with autism are not fully understood yet. In the present study, the sleep patterns in autistic children were reproduced by a modified two-process model using nonlinear analysis. A nap term was introduced into the original two-process model to reproduce the sleep patterns in early infants. The nap term and the time course of Process S are mentioned in the present study. Those parameters led to bifurcation of the sleep-wake cycle in the modified two-process model. In a certain range of these parameter sets, a small external noise was amplified, and an irregular sleep-wake cycle appeared. The short duration of sleep led to another irregular sleep onset or waking. Consequently, an irregular sleep-wake cycle appeared in early infantile autism.

  18. Intestinal congenital/infantile fibrosarcoma: a new clinico-pathological entity?

    PubMed

    Berrebi, Dominique; Fournet, Jean-Christophe; Boman, Françoise; Fabre, Monique; Philippe-Chomette, Pascale; Branchereau, Sophie; Fréneaux, Paul; Bouron-Dal Soglio, Dorothée; Michon, Jean; Peuchmaur, Michel

    2015-04-01

    Congenital/infantile fibrosarcoma (IFS) is a relatively rare form of fibrosarcoma diagnosed at birth or during early years of life and that differs from its adult counterpart because of a more favorable behavior. IFS is also known as cellular congenital mesoblastic nephroma, when it affects the kidney and is often but not always characterized by the ETV6-NTRK3 fusion transcript. We report herein the first series of an exceptional tumor of the small intestine occurring in newborns. The four patients shared a stereotyped clinico-pathological presentation with early and acute onset, intestinal perforation, and an infiltration by a highly cellular spindle cell tumor within the dilated intestinal wall exhibiting pathologic features typical of IFS. Molecular studies for the ETV6-NTRK3 translocation were negative in the three cases tested. Patients were treated by surgical wide resection alone and are alive and well (follow-up: 36 months-25 years). Thus, this new clinico-pathological entity, even with lack of documented evidence of the ETV6-NTRK3 translocation, should be included in the differential diagnosis of congenital bowel perforation or obstruction and may represent an intestinal counterpart of IFS.

  19. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

    PubMed Central

    Zlotogora, J; Furman-Shaharabani, Y; Harris, A; Barth, M L; von Figura, K; Gieselmann, V

    1994-01-01

    Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a founder effect. All the patients were found to be homozygous for 459 + 1 G-->A, a mutation which destroys the splice donor site of exon 2 of the ARSA gene. This mutation has been reported to be the most common mutation causing MLD. We studied the ARSA haplotype defined by three intragenic polymorphic sites in DNA samples from Muslim Arab patients from Jerusalem, a Christian Arab patient originating from the region, and eight other white patients, all homozygous for the 459 + 1 G-->A mutation. All the alleles carried the same haplotype which is in complete linkage disequilibrium with the mutation. This finding indicates a common origin for the 459 + 1 G-->A mutation which may have been introduced into Jerusalem at the time of the Crusades. Images PMID:7815434

  20. Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

    PubMed

    Joyce, Emily; Ho, Jacqueline; El-Gharbawy, Areeg; Salgado, Cláudia M; Ranganathan, Sarangarajan; Reyes-Múgica, Miguel

    2017-01-01

    Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. A 20-month-old boy presented with failure to thrive, polyuria, polydipsia, and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency, and nephrogenic diabetes insipidus. His initial ophthalmologic examination did not demonstrate corneal crystals. His subsequent workup revealed phosphaturia, suggesting a partial proximal tubulopathy. Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance, and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of infantile nephropathic cystinosis. This case highlights the variability in the clinical presentation of cystinosis, resulting in an uncommon clinical picture of a rare disease. Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of cystinosis by recognizing its subtle morphological changes in young patients, and that nephrogenic diabetes insipidus can be secondary to this disorder.

  1. Influence of graft size matching on outcomes of infantile living donor liver transplantation.

    PubMed

    Wan, Ping; Li, Qigen; Zhang, Jianjun; Shen, Conghuan; Luo, Yi; Chen, Qimin; Chen, Xiaosong; Zhang, Ming; Han, Longzhi; Xia, Qiang

    2015-12-01

    We aimed to assess the impact of size mismatching between grafts and recipients on outcomes of infants or small children after LDLT. Between October 2006 and December 2014, 129 LDLT recipients weighing no more than 8 kg were retrospectively analyzed. The entire cohort was categorized into three groups by GRWR: GRWR < 3.0% (group A, n = 38), 3.0% ≤ GRWR < 4.0% (group B, n = 61), and GRWR ≥ 4.0% (group C, n = 30). Baseline characteristics were similar among groups A, B, and C. Compared with groups A and B, post-transplant alanine aminotransferase and aspartate aminotransferase within seven days were significantly higher in group C; however, differences between total bilirubin and albumin after transplantation were not prominent. Moreover, incidences of surgical complications, perioperative deaths, infections, and acute rejections were all comparable among the three groups. Five-yr patient survival rates for groups A, B, and C were 89.5%, 88.9%, and 81.6%, respectively (p = 0.872), and the graft survival rates were 89.5%, 86.6%, and 81.6%, respectively (p = 0.846). In conclusion, GRWR between 1.9% and 5.8% would not cause noticeable adverse events for infantile LDLT recipients ≤ 8 kg. However, there is still a role for considering reduction in the graft mass as an applicable strategy in selected cases.

  2. Using health games for rehabilitation of patients with infantile cerebral palsy.

    PubMed

    Lee, Wan-Chen; Reyes-Fernández, Miriam C; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-08-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients' performance by 40-55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients.

  3. Effectiveness of propranolol in the treatment of infantile hemangioma beyond the proliferation phase.

    PubMed

    Vivas-Colmenares, Grecia V; Bernabeu-Wittel, Jose; Alonso-Arroyo, Veronica; Matute de Cardenas, Jose A; Fernandez-Pineda, Israel

    2015-01-01

    During the last 5 years, many studies have shown the efficacy of propranolol as first-line treatment for infantile hemangiomas (IHs), but not much has been written about the role of propranolol beyond the proliferation phase of IH (>1 year). Our aim was to assess propranolol efficacy and safety in the treatment of patients older than 1 year. A retrospective study of patients older than 1 year diagnosed with IH and treated in our vascular anomalies clinic between 2009 and 2013 was performed. Eighteen patients older than 1 year with a diagnosis of IH (15 girls, 3 boys) were identified. The mean age at the time of initiation of treatment was 25.7 months (range 13-72 mos). Single lesions were observed in 13 patients and multiple lesions in 5. Fifteen patients had focal lesions and three had segmental. The median duration of treatment with oral propranolol was 11.8 months (range 2-33 mos). Complete response was observed in 72.2% of the patients and partial response in 27.8%. Recurrence was observed in three patients 4.7 months after completion of therapy (range 0.3-8 mos). These patients required further therapy with propranolol for 6 more months. Bradycardia was documented in two patients and night terrors in one patient, which led to discontinuation of treatment. In our experience, propranolol may be useful in the treatment of IHs beyond the proliferation phase (>1 year old), but more studies are needed to support this observation.

  4. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

    PubMed

    Ono, Shinji; Yoshiura, Koh-ichiro; Kinoshita, Akira; Kikuchi, Taeko; Nakane, Yoshibumi; Kato, Nobumasa; Sadamatsu, Miyuki; Konishi, Tohru; Nagamitsu, Shinichiro; Matsuura, Masato; Yasuda, Ayako; Komine, Maki; Kanai, Kazuaki; Inoue, Takeshi; Osamura, Toshio; Saito, Kayoko; Hirose, Shinichi; Koide, Hiroyoshi; Tomita, Hiroaki; Ozawa, Hiroki; Niikawa, Norio; Kurotaki, Naohiro

    2012-05-01

    Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C>T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.

  5. The Value Of Renal Biopsy In Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

    PubMed

    Joyce, Emily; Ho, Jacqueline; El-Gharbawy, Areeg; Salgado, Cláudia M; Ranganathan, Sarangarajan; Reyes-Múgica, Miguel

    2015-11-18

    Cystinosis is a rare autosomal recessive disorder and the most common cause of inherited renal Fanconi syndrome in young children. Renal biopsy is usually not necessary to establish the diagnosis, but when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. We describe here renal biopsy findings in a patient with cystinosis. A 20-month-old male presented with failure to thrive, polyuria, polydipsia and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency and nephrogenic diabetes insipidus. His initial ophthalmologic exam did not demonstrate corneal crystals. His subsequent workup revealed phosphaturia, suggesting a partial proximal tubulopathy. Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of infantile nephropathic cystinosis. This case highlights the variability in the clinical presentation of cystinosis, resulting in an uncommon clinical picture of a rare disease. Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of cystinosis by recognizing its subtle morphological changes in young patients, and that nephrogenic diabetes insipidus can be secondary to this disorder.

  6. Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    PubMed Central

    Basel-Vanagaite, Lina; Hershkovitz, Tova; Heyman, Eli; Raspall-Chaure, Miquel; Kakar, Naseebullah; Smirin-Yosef, Pola; Vila-Pueyo, Marta; Kornreich, Liora; Thiele, Holger; Bode, Harald; Lagovsky, Irina; Dahary, Dvir; Haviv, Ami; Hubshman, Monika Weisz; Pasmanik-Chor, Metsada; Nürnberg, Peter; Gothelf, Doron; Kubisch, Christian; Shohat, Mordechai; Macaya, Alfons; Borck, Guntram

    2013-01-01

    Epileptic encephalopathies are genetically heterogeneous severe disorders in which epileptic activity contributes to neurological deterioration. We studied two unrelated children presenting with a distinctive early-onset epileptic encephalopathy characterized by refractory epilepsy and absent developmental milestones, as well as thick and short corpus callosum and persistent cavum septum pellucidum on brain MRI. Using whole-exome sequencing, we identified biallelic mutations in seizure threshold 2 (SZT2) in both affected children. The causative mutations include a homozygous nonsense mutation and a nonsense mutation together with an exonic splice-site mutation in a compound-heterozygous state. The latter mutation leads to exon skipping and premature termination of translation, as shown by RT-PCR in blood RNA of the affected boy. Thus, all three mutations are predicted to result in nonsense-mediated mRNA decay and/or premature protein truncation and thereby loss of SZT2 function. Although the molecular role of the peroxisomal protein SZT2 in neuronal excitability and brain development remains to be defined, Szt2 has been shown to influence seizure threshold and epileptogenesis in mice, consistent with our findings in humans. We conclude that mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy with intractable seizures and distinct neuroradiological anomalies. PMID:23932106

  7. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16

    SciTech Connect

    Wenliang Yan; Ozelius, L.; Breakefield, X.O.; Gusella, J.F. Harvard Medical School, Boston, MA ); Boustany, R.M.N. ); Konradi, C.; Lerner, T.; Trofatter, J.A.; Haines, J.L. ); Julier, C. )

    1993-01-01

    The neuronal ceroid lipofuscinoses (NCL) are a group of progressive neurodegenerative disorders characterized by the deposition of autofluorescent proteinaceous fingerprint or curvilinear bodies. The authors have found that CLN3, the gene underlying the juvenile form of NCL, is very tightly linked to the dinucleotide repeat marker D16S285 on chromosome 16. Integration of D16S285 into the genetic map of chromosome 16 by using the Centre d'Etude du Polymorphisme Humain panel of reference pedigrees yielded a favored marker order in the CLN3 region of qtel-D16S150-.08-D16S285-.04-D16S148-.02-D16S67-ptel. The most likely location of the disease gene, near D16S285 in the D16S150-D16S148 interval, was favored by odds of greater than 10[sup 4]:1 over the adjacent D16S148-D16S67 interval, which was recently reported as the minimum candidate region. Analysis of D16S285 in pedigrees with late-infantile NCL virtually excluded the CLN3 region, suggesting that these two forms of NCL are genetically distinct. 23 refs., 3 figs., 2 tabs.

  8. Increased apoptosis and secretion of tryptase by mast cells in infantile haemangioma treated with propranolol.

    PubMed

    Steel, Ryan; Day, Darren

    2014-10-01

    Propranolol is increasingly used to treat problematic infantile haemangioma (IH), although its molecular mechanisms remain unclear. A key feature of propranolol therapy is the decreased deposition of fibrofatty residuum compared with spontaneously involuting IH. This study investigated the molecular consequences of propranolol treatment for IH in vivo.Immunohistochemical and terminal deoxynucleotidyl transferase dUTP nick end labelling (TUNEL) staining was performed on five age matched patients with proliferative IH. Two patients (A and B) were undergoing propranolol treatment at the time of surgical resection.Propranolol treatment increased apoptosis, and induced mast cells to degranulate and secrete tryptase into the interstitium. The microvessels of patient A were immature [weak von Willibrand Factor (vWF), and strong osteoprotegerin (OPG) staining], comparable to untreated proliferative IH, while those of patient B were mature (strong vWF staining, and no OPG staining). The perivascular CD90 mesenchymal stem cell population was preserved in both propranolol treated patients.Using rarely obtained biopsies from IH patients treated with propranolol, we show increased apoptosis by propranolol for the first time in vivo. We also suggest that mast cells, through secreted proteases, may contribute to the decreased fibrofatty residuum seen with propranolol treatment.

  9. Characterizing infantile hemangiomas with a near-infrared spectroscopic handheld wireless device

    NASA Astrophysics Data System (ADS)

    Fong, Christopher J.; Hoi, Jennifer W.; Kim, Hyun K.; Behr, Gerald; Geller, Lauren; Antonov, Nina; Flexman, Molly; Garzon, Maria; Hielscher, Andreas H.

    2015-03-01

    Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. Currently, no objective tool exist to monitor either progression or treatment of IH. To address this unmet clinical need, we have developed a handheld wireless device (HWD) that uses diffuse optical spectroscopy for the assessment of IH. The system employs 4 wavelengths (l=780nm, 805nm, 850nm, and 905nm) and 6 source-detector pairs with distances between 0.6 and 20 mm. Placed on the skin surface, backreflection data is obtained and a multispectral evolution algorithm is used to determine total hemoglobin concentration and tissue oxygen saturation. First results of an ongoing pilot study involving 13 patients (average enrollment age = 25 months) suggest that an increase in hypoxic stress over time can lead to the proliferation of IH. Involuting IH lesions showed an increase in tissue oxygen saturation as well as a decrease in total hemoglobin.

  10. Using health games for rehabilitation of patients with infantile cerebral palsy

    PubMed Central

    Lee, Wan-Chen; Reyes-Fernández, Miriam C.; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-01-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients’ performance by 40–55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients. PMID:27630417

  11. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

    PubMed Central

    Shamseldin, Hanan E.; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S.; Gleeson, Joseph G.; Alkuraya, Fowzan S.

    2016-01-01

    Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. PMID:26708753

  12. Vision development in the monocular individual: implications for the mechanisms of normal binocular vision development and the treatment of infantile esotropia.

    PubMed Central

    Day, S

    1995-01-01

    PURPOSE: The purpose of this research is to study the vision development in monocular individuals so as to better understand normal binocular vision development and to refine the treatment of infants with infantile esotropia. METHODS: Thirty-six subjects with one clinically normal eye and one eye with no vision (no light perception or history of enucleation) are studied. In addition to measurement of standard parameters of development such as visual acuity, measurement of motion processing is made by both optokinetic and electrophysiologic techniques. A comparison is made of vision development among three populations: the monocular population, the normal population, and patients with a history of infantile esotropia. Such comparison is made to study the relative effects of interruption of binocularity and binocular competition. The monocular population represents individuals who have interruption of binocularity, whereas the infantile esotropia population has both interruption of binocularity and binocular competition. RESULTS: The OKN data suggest that the monucular population is more similar to the normal population than the esotropia population. The electrophysiologic data shows a statistically significant difference in the three populations. Motion processing is more fully developed in the monocular population than in the infantile esotropia population when compared to the normal population. CONCLUSIONS: 1. The development of motion processing appears to be particularly vulnerable to abnormal experience during the first year of life. 2. Monocular subjects have a less abnormal motion processing system when compared to patients with infantile esotropia even when monocularity is congenital. 3. The results indirectly support the premise that prealignment alternate occlusion is of benefit to the patient with infantile esotropia prior to realignment. 4. Development of the motion processing system does not necessarily parallel the development of other binocular

  13. Nystagmus and Related Fixation Instabilities Following Extraction of Unilateral Infantile Cataract in the Infant Aphakia Treatment Study (IATS)

    PubMed Central

    Felius, Joost; Busettini, Claudio; Lynn, Michael J.; Hartmann, E. Eugenie; Lambert, Scott R.

    2014-01-01

    Purpose. To study eye movements in a large group of children after the removal of unilateral infantile cataract, and to compare fixation instabilities between treatment groups with or without IOL implantation. Methods. The Infant Aphakia Treatment Study (IATS) is a randomized, multicenter clinical trial comparing IOL to contact lens (CL) treatment with a unilateral infantile cataract in participants who underwent cataract surgery at 1 to 6 months of age. At age 4.5 years, eye movements were recorded in 103 participants, using a high-speed video camera while the child performed a fixation task. The recordings were inspected by masked readers for the presence of fixation instabilities (nystagmus and saccadic oscillations). Results. Overall, fixation instabilities were observed in 50 (60%) of 83 children who had evaluable recordings, with no differences between treatment groups (27 [64%] of 42 in the IOL group, 23 [56%] of 41 in the CL group; P = 0.51). Nystagmus was seen in 38% and saccadic oscillations in 31%, with no differences between treatment groups (P > 0.33). Children without a fixation instability had better visual acuity (P = 0.04). Conclusions. Nystagmus and saccadic oscillations are well-known consequences of infantile cataracts, presumably the result of visual deprivation during the critical period of visual development. After early cataract extraction, successful optical correction may reduce further form deprivation and minimize the incidence of these fixation instabilities. In this study, no differences in the presence of fixation instabilities were found between the two treatment strategies (CL or IOL) for optical correction after cataract removal. (ClinicalTrials.gov number, NCT00212134.) PMID:25097243

  14. The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

    PubMed Central

    Miller, Jake N.; Kovács, Attila D.; Pearce, David A.

    2015-01-01

    The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive neurodegenerative disorders in children characterized by the progressive onset of seizures, blindness, motor and cognitive decline and premature death. Patients with mutations in CLN1 primarily manifest with infantile NCL (INCL or Haltia-Santavuori disease), which is second only to congenital NCL for its age of onset and devastating progression. CLN1 encodes a lysosomal enzyme, palmitoyl-protein thioesterase 1 (PPT1). Nonsense mutations in CLN1 account for 52.3% of all disease causing alleles in infantile NCL, the most common of which worldwide is the p.R151X mutation. Previously, we have shown how nonsense-mediated decay is involved in the degradation of CLN1 mRNA transcripts containing the p.R151X mutation in human lymphoblast cell lines. We have also shown how the read-through drugs gentamicin and ataluren (PTC124) increase CLN1 (PPT1) enzyme activity. Here, we provide the initial characterization of the novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis that we have generated. This nonsense mutation model recapitulates the molecular, histological and behavioral phenotypes of the human disease. Cln1R151X mice showed a significant decrease in Cln1 mRNA level and PPT1 enzyme activity, accumulation of autofluorescent storage material, astrocytosis and microglial activation in the brain. Behavioral characterization of Cln1R151X mice at 3 and 5 months of age revealed significant motor deficits as measured by the vertical pole and rotarod tests. We also show how the read-through compound ataluren (PTC124) increases PPT1 enzyme activity and protein level in Cln1R151X mice in a proof-of-principle study. PMID:25205113

  15. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

    PubMed

    Haghighi, Alireza; Rezazadeh, Jamileh; Shadmehri, Azam Ahmadi; Haghighi, Amirreza; Kornreich, Ruth; Desnick, Robert J

    2011-09-01

    The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation.

  16. Successful management of multi-focal hepatic infantile hemangioendothelioma using TACE/surgery followed by maintenance metronomic therapy.

    PubMed

    Sondhi, Vishal; Kurkure, Purna Arun; Vora, Tushar; Banavali, Shripad D; Vishwanathan, S; Medhi, Seema; Kulkarni, Anirudh; Quereshi, Sajid; Arora, Brijesh

    2012-03-08

    Infantile hepatic hemangioendothelioma (IHE) is a rare angiogenic tumour with diverse clinical presentations and varied course ranging from spontaneous regression to life-threatening complications. The authors report a 2-year boy who presented with respiratory distress and was identified as a case of inoperable multi-focal hepatic IHE. He showed a transient response to trans-arterial-chemo-embolisation and liver resection but had progressive disease despite chemotherapy (prednisolone/vicristine/ifosfamide/cisplatin). Thereafter, he was successfully managed with metronomic therapy using cyclophosphamide and tamoxifen.

  17. Counter-immunoelectro-osmophoresis for the detection of infantile gastroenteritis virus (orbi-group) antigen and antibody.

    PubMed

    Middleton, P J; Petric, M; Hewitt, C M; Szymanski, M T; Tam, J S

    1976-03-01

    A moderatley sensitive, rapid, and economical test scheme for the detection of infantile gastroenteritis virus (IGV) in stool or antibody in serum has been developed and evaluated. The test scheme with minor modifications was an adaptation of a counter-immunoelectro-osmophoresis system we once used for the detection of hepatitis B antigen. Large numbers of stool samples may be screened during half a working day for the presence of IGV using reference antiserum to IGV prepared in guinea-pigs. Serological studies of a diagnostic but not epidemiological nature may also be performed with equal facility by this same test scheme using highly purified IGV antigen derived from stool.

  18. Short adolescence in early hominids: infantile and adolescent growth of the human femur.

    PubMed

    Tardieu, C

    1998-10-01

    Did the first hominids have a short developmental period similar to that of the great apes or a longer period closer to that of modern humans? Evidence from studies on dental and facial growth favors the first point of view. Additional evidence presented in this report is provided by a morphogenetic analysis of the lower limb. Some morphological modifications undergone by the human femur during infantile and adolescent growth are shown to be excellent markers of different developmental stages. The angular remodelling of the femoral diaphysis, which results in femoral bicondylar angle, is a marker of infancy, while the reshaping of the distal femoral epiphysis is a marker of adolescence. This reshaping of the bony epiphysis consists of the strong projection of the external lip of the femoral trochlea, the increase of the radius of curvature of the external condyle, and the anteroposterior lengthening of the whole epiphysis. The growth spurt in linear dimensions of the femur, characteristic of human adolescence, is shown to be associated with qualitative changes of the distal femoral epiphysis engendered by the late closure of the distal epiphysis. The femur of the first hominids (Australopithecus afarensis) shows only features of infantile growth, whereas characters of both precocious and later growth are typical of later hominids (Homo). The absence of the derived epiphyseal features in Australopithecus would be linked to their early epiphyseal closure and short adolescent growth period; their presence in Homo would have been promoted by their delayed epiphyseal closure and prolonged adolescent growth period. The transition from Australopithecus to Homo appears to have involved a heterochronic process of time hypermorphosis (Gould, [1977], Ontogeny and Phylogeny [Cambridge: Harvard University Press]) in which the size of the femur increases, the epiphysis is modified, and the period of peripubertal growth is prolonged. The shape of the distal epiphyses of KNM

  19. Essential infantile esotropia with inferior oblique hyperfunction: long term follow-up of 6 muscles approach

    PubMed Central

    Magli, Adriano; Carelli, Roberta; Chiariello Vecchio, Elisabetta; Esposito, Francesca; Rombetto, Luca; Esposito Veneruso, Paolo

    2016-01-01

    AIM To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE). METHODS A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique (IO) hyperfunction and lateral rectus (LR) pseudoparalysis, who underwent surgery at different ages. Different clinical characters were analyzed pre- and postoperatively, in patients who underwent a 6 muscles approach ≤4 years of age. All patients underwent a multiple muscles approach: bilateral medial recti (MR) recession (4-5 mm), bilateral LR resection (lower than 7 mm) and bilateral IO recession and anteroposition. Of 108 children with preoperative angle ≥+30 prism diopters (PD) and IO hyperfunction were selected from larger cohort of patients (n=213, 103 females and 110 males) after excluding patients with: angle variability, who underwent reoperation and with incomplete follow up. Preoperative assessment and complete orthoptic examination were performed. Follow-up was performed 3mo, 2, 5 and 10y after surgery. Statistical analysis was performes using SAS statistical software package (version 9.1, SAS Institute Inc., Cary, NC, USA). RESULTS Ten years follow up data analysis showed the following percentage of orthotropic patients: (0 PD): 3mo, 22.2%; 2y, 16.7%; 5y, 25.0% and 10y, 27.8%. A slight, significant (P<0.01), increase of 2y follow up residual deviation was found when compared to 3mo one. Stationary surgical results is reported during time, with a trend of mean residual deviation reduction (P=0.04). CONCLUSION Our results confirm the reliability of multiple muscles surgical approach in the treatment of patients affected by EIE with OI hyperfunction. PMID:28003983

  20. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

    PubMed Central

    Ito, Y; Fisher, C R; Conte, F A; Grumbach, M M; Simpson, E R

    1993-01-01

    We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. The coding exons, namely exons II-X, of the CYP19 gene were amplified by PCR from genomic DNA and sequenced directly. Direct sequencing of the amplified DNA from the patient revealed two single-base changes, at bp 1303 (C-->T) and bp 1310 (G-->A) in exon X, which were newly found missense mutations and resulted in codon changes of R435C and C437Y, respectively. Subcloning followed by sequencing confirmed that the patient is a compound heterozygote. The results of restriction fragment length polymorphism analysis and direct sequencing of the amplified exon X DNA from the patient's mother indicate maternal inheritance of the R435C mutation. Transient expression experiments showed that the R435C mutant protein had approximately 1.1% of the activity of the wild type, whereas C437Y was totally inactive. Cysteine-437 is the conserved cysteine in the heme-binding region believed to serve as the fifth coordinating ligand of the heme iron. To our knowledge, this patient is the first adult to have described the cardinal features of a syndrome of aromatase deficiency. Recognition that such defects exist will lead to a better understanding of the role of this enzyme in human development and disease. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:8265607

  1. Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus

    PubMed Central

    Zhao, Hui; Huang, Xiu-Feng; Zheng, Zhi-Li; Deng, Wen-Li; Lei, Xin-Lan; Xing, Dong-Jun; Ye, Liang; Xu, Su-Zhong; Chen, Jie; Zhang, Fang; Yu, Xin-Ping; Jin, Zi-Bing

    2016-01-01

    Objectives Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. Design Prospective analysis. Patients Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. Mutational analysis and co-segregation confirmation were then performed. Setting All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University. Results Two mutations in the FRMD7 gene, including one novel nonsense mutation (c.1090C>T, p.Q364X) and one reported missense mutation (c.781C>G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in FRMD7 or GPR143 in any of the sporadic cases. Conclusions The results suggest that mutations in FRMD7 appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus. PMID:27036142

  2. More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians

    PubMed Central

    Hechtman, Peter; Kaplan, Feige; Bayleran, Janet; Boulay, Bernard; Andermann, Eva; de Braekeleer, Marc; Melançon, Serge; Lambert, Marie; Potier, Michel; Gagné, Richard; Kolodny, Edwin; Clow, Carol; Capua, Aniceta; Prevost, Claude; Scriver, Charles

    1990-01-01

    Two Tay-Sachs disease (TSD) patients of French-Canadian origin were shown by Myerowitz and Hogikyan to be homozygous for a 7.6-kb deletion mutation at the 5' end of the hexosaminidase A α-subunit gene. In order to determine whether all French-Canadian TSD patients were homozygotes for the deletion allele and to assess the geographic origins of TSD in this population, we ascertained 12 TSD families of French-Canadian origin and screened for occurrence of mutations associated with infantile TSD. DNA samples were obtained from 12 French-Canadian TSD families. Samples were analyzed using polymerase-chain-reaction (PCR) amplification followed by hybridization to allele-specific oligonucleotides (ASO) or by restriction analysis of PCR products. In some cases Southern analysis of genomic DNA was performed. Eighteen of the 22 independently segregating mutant chromosomes in this sample carried the 7.6-kb deletion mutation at the 5' end of the gene. One chromosome carried the 4-nucleotide insertion in exon 11 (a “Jewish” mutation). In this population no individuals were detected who had the substitution at the splice junction of exon 12 previously identified in Ashkenazi Jews. One chromosome carried an undescribed B1 mutation; this allele came from a parent of non-French-Canadian origin. Patients in three families carried TSD alleles different from any of the above mutations. The 5' deletion mutation clusters in persons originating in southeastern Quebec (Gaspé) and adjacent counties of northern New Brunswick. ImagesFigure 3Figure 4Figure 5Figure 6 PMID:2220821

  3. Initiation and use of propranolol for infantile hemangioma: report of a consensus conference.

    PubMed

    Drolet, Beth A; Frommelt, Peter C; Chamlin, Sarah L; Haggstrom, Anita; Bauman, Nancy M; Chiu, Yvonne E; Chun, Robert H; Garzon, Maria C; Holland, Kristen E; Liberman, Leonardo; MacLellan-Tobert, Susan; Mancini, Anthony J; Metry, Denise; Puttgen, Katherine B; Seefeldt, Marcia; Sidbury, Robert; Ward, Kendra M; Blei, Francine; Baselga, Eulalia; Cassidy, Laura; Darrow, David H; Joachim, Shawna; Kwon, Eun-Kyung M; Martin, Kari; Perkins, Jonathan; Siegel, Dawn H; Boucek, Robert J; Frieden, Ilona J

    2013-01-01

    Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in

  4. Analysis of the therapeutic evolution in the management of airway infantile hemangioma

    PubMed Central

    Vivas-Colmenares, Grecia V; Fernandez-Pineda, Israel; Lopez-Gutierrez, Juan Carlos; Fernandez-Hurtado, Miguel Angel; Garcia-Casillas, Maria Antonia; Matute de Cardenas, Jose Antonio

    2016-01-01

    AIM: To analyze the evolution in the management of airway infantile hemangioma (AIH) and to report the results from 3 pediatric tertiary care institutions. METHODS: A retrospective study of patients with diagnosis of AIH and treated in 3 pediatric tertiary care institutions from 1996 to 2014 was performed. RESULTS: Twenty-three patients with diagnosis of AIH were identified. Mean age at diagnosis was 6 mo (range, 1-27). Single therapy was indicated in 16 patients and 7 patients received combined therapy. Two therapeutic groups were identified: Group A included 14 patients who were treated with steroids, interferon, laser therapy and/or surgery; group B included 9 patients treated with oral propranolol. In group A, oral corticosteroids were used in 9 patients with a good response in 3 cases (no requiring other therapeutic option), the other patients required additional treatment options. Cushing syndrome was observed in 3 patients. One patient died of a fulminant sepsis. Open surgical excision and endoscopic therapy were performed in 11 patients (in 5 of them as a single treatment) with a response rate of 54.5%. Stridor persisted in 2 cases, and one patient died during the clinical course of bronchial aspiration. In group B, oral propranolol was used in 9 patients (in 8 of them as a single treatment) with a response rate of 100%, with an mean treatment duration of 7 mo (range, 5-10); complications were not observed. CONCLUSION: Our experience and the medical literature support the use of propranolol as a first line of treatment in AIH. PMID:26862508

  5. Association of infantile bruxism and the terminal relationships of the primary second molars.

    PubMed

    Junqueira, Tatiana Helena; Nahás-Scocate, Ana Carla Raphaelli; Valle-Corotti, Karyna Martins do; Conti, Ana Claudia de Castro Ferreira; Trevisan, Shirley

    2013-01-01

    The aim of this study was to analyze the association between infantile bruxism and the terminal relationships of the primary second molars. A total of 937 pre-school children (both genders), aged from 2 to 6 years, from municipal schools in São Paulo were evaluated. In this study, a questionnaire considering the bruxism habit and the presence of headaches and/or restless sleep was answered by the parents/guardians. A clinical exam of occlusion in the anteroposterior direction (vertical plane - VP, mesial step - MS and distal step - DS) was performed by the examiners in the school environment. Student's t test, Fisher's test and a logistic regression test were applied for the statistical analysis at a significance level of 5%. The prevalence of the bruxism habit was 29.3% among the total sample. Because there was no significant difference between the sides evaluated, the left side was taken as the standard. Among those children with bruxism, 25.7% presented a mesial step terminal relationship at the primary second molars, 29.1% had DS, and 30.2% had VP. Regarding the association of the parafunctional habit with the type of terminal relationship, no significant results were found. Children who slept restlessly or suffered from headaches were verified to show a higher chance of expressing the habit (OR = 2.4 and 1.6, respectively). The prevalence of bruxism in the studied sample was 29.3%, and its association with the primary second molars' terminal relationship was not statistically significant.

  6. Effects of augmented tenotomy and reattachment in the infantile nystagmus syndrome

    PubMed Central

    Dell’Osso, Louis F.; Orge, Faruk H.; Jacobs, Jonathan B.

    2016-01-01

    Purpose To test the hypothesis that augmented tenotomy and reattachment surgery (AT-R), which involves placing an additional suture in each distal tendon during the 4-muscle tenotomy and reattachment (T-R) or other infantile nystagmus syndrome (INS) procedures, could increase the beneficial effects of many types of extraocular muscle (EOM) surgery to treat INS. Methods Both infrared reflection and high-speed digital video systems were used to record the eye movements in 4 patients with INS before and after AT-R surgery. Data were analyzed using the eXpanded Nystagmus Acuity Function (NAFX) that is part of the OMtools software. Results Placement of the augmentation suture did not interfere with Kestenbaum, Anderson, bilateral medial rectus muscle recession, or T-R surgeries. The therapeutic effects of AT-R were similar to but not equal to those from the traditional single-suture surgeries (ie, broadening longest foveation domain [LFD] but no improvement of NAFX peak). The average of the NAFX percent improvements after AT-R was within 31% of those estimated from NAFX values before T-R; the average of the percent broadenings of the LFD values after AT-R was within 16%. Conclusions The AT-R does not improve the foveation quality in INS above the traditional T-R surgery. It is not improved by an additional suture; indeed, some improvements may be diminished by the added suture. The hypothesized augmented-tendon suture technique (sans tenotomy) has been modified and remains to be tested. PMID:27330478

  7. Infantile Overnutrition in the First Year of Life: A Field Study in Dudley, Worcestershire

    PubMed Central

    Shukla, A.; Forsyth, H. A.; Anderson, Charlotte M.; Marwah, S. M.

    1972-01-01

    A survey of feeding patterns and nutrient intake in relation to the growth of 300 normal infants up to 1 year of age in Dudley, Worcestershire, highlights a problem of overnutrition in the group; 50 (16·7%) were found to be suffering from infantile obesity and a further 83 (27·7%) were overweight. During the first three months of life the daily energy intakes of 136 cal/kg body weight for boys and 149 for girls were markedly greater than the level of 120/kg recommended by the Department of Health and Social Security. This coincided with the early addition of solid foods to a full milk intake. 119 babies (39·7%) were offered solids before they were 4 weeks old and 280 (93·3%) before 13 weeks of age. Some babies had solids from the first week after birth. Protein intake was persistently high throughout the first year, and the mean intake of 32·7 g/day was much greater than the intake of 20 g for infants aged up to 1 year recommended by the Department of Health. Standards for fat and carbohydrate intake are not available but in comparison with the levels reported in breast-fed babies intake of fat and carbohydrate was high in the first three months and came closer to the desired level for the former and remained slightly high for the latter in the subsequent age quarters. The relation of childhood and subsequent adult obesity to infant feeding patterns is not yet clear, but there is a high correlation between obese parents and obese and overweight babies; had these babies not been overfed the condition might have been prevented. PMID:4642789

  8. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

    PubMed

    Teixeira, Carla A; Espinola, Janice; Huo, Liang; Kohlschütter, Johannes; Persaud Sawin, Dixie-Ann; Minassian, Berge; Bessa, Carlos J P; Guimarães, A; Stephan, Dietrich A; Sá Miranda, Maria Clara; MacDonald, Marcy E; Ribeiro, Maria Gil; Boustany, Rose-Mary N

    2003-05-01

    The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in which cause one of the variant late infantile forms of NCL (vLINCL). We describe four novel mutations in the CLN6 gene. This brings the total number of CLN6 mutations known to 11 in 38 families. This suggests that the CLN6 gene may be highly mutable. An American patient of Irish/French/Native American origin was heterozygous for a 4-bp insertion (c.267_268insAACG) in exon 3. The other allele had a point mutation (c.898T>C) in exon 7 resulting in a W300R amino acid change. Two Trinidadian siblings of Indian origin were homozygous for a mutation at the 5' donor splice site of exon 4 (IVS4+1G>T), affecting the first base of the invariant GT at the beginning of intron 4. The fourth novel mutation, a double deletion of 4 bp and 1 bp in exon 7 (c.829_832delGTCG;c.837delG), was identified in a Portuguese patient heterozygous for the I154del Portuguese CLN6 mutation. Four of the 11 mutations identified are in exon 4. Three Portuguese patients with clinical profiles similar to CLN6 patients without defects in CLN6 or other known NCL genes are described. We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene.

  9. Influence of Motion Smear on Visual Acuity in Simulated Infantile Nystagmus

    PubMed Central

    Chung, Susana T. L.; LaFrance, Martin W.; Bedell, Harold E.

    2011-01-01

    Purpose In persons with infantile nystagmus (IN), visual acuity correlates with the duration of the foveation period of the nystagmus waveform, i.e., when the retinal image is on or near the fovea and moves with low velocity. In this study, we asked how acuity is affected by the non-foveating phases of the nystagmus waveform, when the velocity of retinal image motion is substantially higher. Methods Visual acuity was measured in three normal observers for high-contrast, 4-orientation Ts, presented during image motion that simulated either the whole jerk-IN waveform (whole-waveform) or only the foveation periods of the IN waveform (foveation-only). Simulated foveation durations ranged from 20 to 120 ms. For both motion waveforms, we displayed the acuity target for different number of cycles to examine if acuity benefits from multiple presentations of the stimulus. Results As expected, visual acuity improves with longer simulated foveation durations in both the whole-waveform and foveation-only conditions. Acuity is consistently better (by approximately 0.1 logMAR) in the foveation-only than the whole-waveform condition, indicating that the high-velocity image motion during the simulated IN waveform has a detrimental effect. This difference in acuity between the two waveform conditions increases with the number of cycles, apparently because summation occurs across cycles in the foveation-only condition but not in the whole-waveform condition. Conclusions In normal observers, visual acuity in the presence of a simulated nystagmus waveform is limited not only by the duration of the foveation periods, but also by the non-foveating phases of the waveform. However, because persons with IN report little or no motion smear in association with their nystagmus, it remains unclear whether the rapid retinal image motion during the non-foveating phases of the nystagmus waveform generates a similar degradation of visual acuity in IN. PMID:21200353

  10. The effect of subclinical infantile thiamine deficiency on motor function in preschool children.

    PubMed

    Harel, Yael; Zuk, Luba; Guindy, Michal; Nakar, Orly; Lotan, Dafna; Fattal-Valevski, Aviva

    2017-01-29

    We investigated the long-term implications of infantile thiamine (vitamin B1) deficiency on motor function in preschoolers who had been fed during the first 2 years of life with a faulty milk substitute. In this retrospective cohort study, 39 children aged 5-6 years who had been exposed to a thiamine-deficient formula during infancy were compared with 30 age-matched healthy children with unremarkable infant nutritional history. The motor function of the participants was evaluated with The Movement Assessment Battery for Children (M-ABC) and the Zuk Assessment. Both evaluation tools revealed statistically significant differences between the exposed and unexposed groups for gross and fine motor development (p < .001, ball skills p = .01) and grapho-motor development (p = .004). The differences were especially noteworthy on M-ABC testing for balance control functioning (p < .001, OR 5.4; 95% CI 3.4-7.4) and fine motor skills (p < .001, OR 3.2; 95% CI 1.8-4.6). In the exposed group, both assessments concurred on the high rate of children exhibiting motor function difficulties in comparison to unexposed group (M-ABC: 56% vs. 10%, Zuk Assessment: 59% vs. 3%, p < .001). Thiamine deficiency in infancy has long-term implications on gross and fine motor function and balance skills in childhood, thiamine having a crucial role in normal motor development. The study emphasizes the importance of proper infant feeding and regulatory control of breast milk substitutes.

  11. Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

    PubMed

    Sá, Maria João Nabais; Rocha, Júlio C; Almeida, Manuela F; Carmona, Carla; Martins, Esmeralda; Miranda, Vasco; Coutinho, Miguel; Ferreira, Rita; Pacheco, Sara; Laranjeira, Francisco; Ribeiro, Isaura; Fortuna, Ana Maria; Lacerda, Lúcia

    2016-01-01

    Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal. Thus, a detailed characterization of the phenotype was essential to point to a ZSD. Repeatedly increased levels of plasma VLCFA, along with phytanic acid and pristanic acid, deficient dihydroxyacetone phosphate acyltransferase activity in fibroblasts and identification of the homozygous pathogenic mutation c.2528G>A (p.Gly843Asp) in the PEX1 gene, confirmed this diagnosis. Nutritional advice and follow-up was proposed aiming phytanic acid dietary intake reduction. During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a ZSD in any child with developmental delay who manifests hearing and visual impairment and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased. During dietary intervention, a biochemical improvement was observed, and the long-term clinical effect of this approach needs to be evaluated.

  12. [Emotional self-regulation in infantile attention deficit hyperactivity disorder and P300 evoked potentials].

    PubMed

    Roca, Patricia; Mulas, Fernando; Ortiz-Sánchez, Pedro; Gandía-Benetó, Rubén

    2015-02-25

    Introduccion. Las dificultades de regulacion emocional en los pacientes con trastorno por deficit de atencion/hiperactividad (TDAH) han despertado un interes marcado en los ultimos años, y existe una linea de trabajo en la identificacion de correlatos neurofisiologicos. Objetivo. Analizar, en una muestra de niños con TDAH con y sin tratamiento, medidas de funcionamiento emocional y su correlacion con el componente P300. Pacientes y metodos. La muestra constaba de 71 niños con TDAH, de los que casi la mitad tomaba medicacion. Se analizo el potencial P300 auditivo. Los padres cumplimentaron una escala de comportamiento ejecutivo en el hogar –Behavior Rating Inventory of Executive Function (BRIEF)–, de la que se tomo el indice de autorregulacion emocional, y la escala de expresion emocional. Resultados. Se hallaron correlaciones significativas entre la amplitud del P300 y el indice de autorregulacion emocional de la version para preescolares del BRIEF, y se encontro relacion entre la latencia del P300 y la gravedad de los sintomas. Conclusion. Los resultados enfatizan la utilidad de los potenciales evocados para el estudio de correlatos ejecutivos y condiciones asociadas en el funcionamiento diario de los niños con TDAH.

  13. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

    PubMed Central

    Szepetowski, P; Rochette, J; Berquin, P; Piussan, C; Lathrop, G M; Monaco, A P

    1997-01-01

    Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic syndromes. Paroxysmal choreoathetosis is an involuntary-movement disorder characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Classification is still elusive, and the epileptic nature of this movement disorder has long been discussed and remains controversial. We have studied four families from northwestern France in which benign infantile convulsions was inherited as an autosomal dominant trait together with variably expressed paroxysmal choreoathetosis. The human genome was screened with microsatellite markers regularly spaced, and strong evidence of linkage for the disease gene was obtained in the pericentromeric region of chromosome 16, with a maximum two-point LOD score, for D16S3133, of 6.76 at a recombination fraction of 0. Critical recombinants narrowed the region of interest to a 10-cM interval around the centromere. Our study provides the first genetic evidence for a common basis of convulsive and choreoathetotic disorders and will help in the understanding and classification of paroxysmal neurological syndromes. PMID:9382100

  14. Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A

    PubMed Central

    Syrbe, Steffen; Zhorov, Boris S.; Bertsche, Astrid; Bernhard, Matthias K.; Hornemann, Frauke; Mütze, Ulrike; Hoffmann, Jessica; Hörtnagel, Konstanze; Kiess, Wieland; Hirsch, Franz W.; Lemke, Johannes R.; Merkenschlager, Andreas

    2016-01-01

    Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS. A change of ion selectivity of Nav1.2 is considered to be the potential pathomechanism underlying this Nav1.2 channel dysfunction. The observation of benign and severe phenotypes due to an identical mutation within one family contradicts the hypothesis of different modes of inheritance as a mandatory feature discriminating BFNIS from SCN2A encephalopathy. PMID:27781028

  15. Linear IgA dermatosis: report of an infantile case and analysis of 213 cases in Japan.

    PubMed

    Horiguchi, Yuji; Ikoma, Akihiko; Sakai, Rie; Masatsugu, Asako; Ohta, Miyuki; Hashimoto, Takashi

    2008-11-01

    A 3-year-old boy presented with multiple vesicles, showing a rosette-like arrangement around the crusts. Histopathological and immunohistochemical examinations demonstrated subepidermal blistering with neutrophilic infiltration associated with deposition of IgA, but not IgG, linearly distributed along the basement membrane zone (BMZ) of the epidermis. Indirect immunofluorescence revealed circulating antibodies (IgA class, x160) against the BMZ of guinea pig lip skin. Based on the diagnosis of linear IgA dermatosis (LAD) of childhood, administration of dexamethasone (2 mg/day) was started, and the eruptions diminished immediately. Western blot analysis using extract of the HaCaT cell as a substrate, demonstrated the corresponding antigen at 120-kDa molecular weight. There have been 213 cases of LAD reported in Japan including conference abstracts and these were studied to determine whether infantile cases differed from adult ones, and whether cases associated with IgG as well as IgA (IgA/G type), differed from the cases associated with IgA only (IgA type). IgG contributed less frequently to the infantile type (age of onset, < or =15 years) than to the adult type (age of onset, > or =16 years). Clinical appearance did not show any obvious difference between the IgA/G type and IgA type. However, three-quarters of cases showing localization of antigen to the dermal side were the IgA/G type.

  16. Enhanced taupathy and AD-like pathology in aged primate brains decades after infantile exposure to lead (Pb).

    PubMed

    Bihaqi, Syed Waseem; Zawia, Nasser H

    2013-12-01

    Late Onset Alzheimer Disease (LOAD) constitutes the majority of AD cases (∼90%). Amyloidosis and tau pathology, which are present in AD brains, appear to be sporadic in nature. We have previously shown that infantile lead (Pb) exposure is associated with a change in the expression and regulation of the amyloid precursor protein (APP) and its beta amyloid (Aβ) products in old age. Here we report that infantile Pb exposure elevated the mRNA and protein levels of tau as well as its transcriptional regulators namely specificity protein 1 and 3 (Sp1 and Sp3) in aged primates. These changes were also accompanied by an enhancement in site-specific tau phosphorylation as well as an increase in the mRNA and protein levels of cyclin dependent kinase 5 (cdk5). There was also a change in the protein ratio of p35/p25 with more Serine/Threonine phosphatase activity present in aged primates exposed to Pb as infants. These molecular alterations favored abundant tau phosphorylation and immunoreactivity in the frontal cortex of aged primates with prior Pb exposure. These findings provide more evidence that neurodegenerative diseases may be products of environmental influences that occur during the development.

  17. Expression of components of the renin-angiotensin system in proliferating infantile haemangioma may account for the propranolol-induced accelerated involution.

    PubMed

    Itinteang, Tinte; Brasch, Helen D; Tan, Swee T; Day, Darren J

    2011-06-01

    Infantile haemangioma is a benign tumour of the microvasculature characterised by excessive proliferation of immature endothelial cells. It typically undergoes rapid proliferation during infancy followed by spontaneous slow involution during childhood often leaving a fibro-fatty residuum. In 2008, propranolol, a non-selective β-blocker, was serendipitously discovered to induce accelerated involution of a proliferating infantile haemangioma. However, the mechanism by which propranolol causes this dramatic effect is unclear. Using immunohistochemical staining, we show that the CD34+ endothelial progenitor cells of the microvessels in proliferating infantile haemangioma express angiotensin-converting enzyme and angiotensin II receptor-2, but not angiotensin II receptor-1. We have also shown using our in vitro explant model that the cells emanating from proliferating haemangioma biopsies form blast-like structures that proliferate in the presence of angiotensin II. We present here a plausible model involving the renin-angiotensin system that may account for the propranolol-induced accelerated involution of proliferating infantile haemangioma.

  18. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.

    PubMed

    Spiridigliozzi, Gail A; Heller, James H; Kishnani, Priya S

    2012-02-15

    This report documents the long-term cognitive and adaptive outcome of children with infantile Pompe disease. Specifically, we describe the cognitive and adaptive functioning of seven children with classic infantile Pompe disease and two children with atypical infantile Pompe disease who have received enzyme replacement therapy (Myozyme®) for an average of 6 years, 8 months and 4 years, 1. 5 months, respectively. Multiple assessments of cognitive functioning were completed over time by means of individualized intelligence (IQ) testing. Adaptive functioning was measured by means of the Vineland Adaptive Behavior Scales-Second Edition (VABS-II). Consistent with our earlier findings regarding infants treated with ERT, children with classic infantile Pompe disease (ages 4 years, 11 months to 8 years, 11 months) were functioning at the lower end of the average range in comparison to their typical peers on their most recent IQ test. There was no evidence of a decline in their cognitive abilities over time. In contrast, the two children with atypical infantile Pompe disease (ages 5 years, 4 months and 5 years, 11 months) obtained above average IQ scores and demonstrated significant gains in IQ over time. For all children where adaptive functioning was assessed, their overall level of adaptive functioning on the VABS-II was lower than their Full Scale IQ scores on cognitive testing. Motor function appears to be an important factor impacting on reduced adaptive behavior. The implication of these findings on our understanding of a possible relationship between CNS status in children with Pompe and their adaptive and cognitive function is discussed.

  19. Gene expression analysis reveals marked differences in the transcriptome of infantile hemangioma endothelial cells compared to normal dermal microvascular endothelial cells

    PubMed Central

    2013-01-01

    Background Infantile hemangiomas are benign vascular tumors primarily found on the skin in 10% of the pediatric population. The etiology of this disease is largely unknown and while large scale genomic studies have examined the transcriptomes of infantile hemangioma tumors as a whole, no study to date has compared the global gene expression profiles of pure infantile hemangioma endothelial cells (HEMECs) to that of normal human dermal microvascular endothelial cells (HDMVECs). Methods To shed light on the molecular differences between these normal and aberrant dermal endothelial cell types, we performed whole genome microarray analysis on purified cultures of HEMECs and HDMVECs. We then utilized qPCR and immunohistochemistry to confirm our microarray results. Results Our array analysis identified 125 genes whose expression was upregulated and 104 genes whose expression was downregulated by greater than two fold in HEMECs compared to HDMVECs. Bioinformatics analysis revealed three major classifications of gene functions that were altered in HEMECs including cell adhesion, cell cycle, and arachidonic acid production. Several of these genes have been reported to be critical regulators and/or mutated in cancer, vascular tumors, and vascular malformations. We confirmed the expression of a subset of these differentially expressed genes (ANGPT2, ANTXR1, SMARCE1, RGS5, CTAG2, LTBP2, CLDN11, and KISS1) using qPCR and utilized immunohistochemistry on a panel of paraffin embedded infantile hemangioma tumor tissues to demonstrate that the cancer/testis antigen CTAG2 is highly abundant in vessel-dense proliferating infantile hemangiomas and with significantly reduced levels during tumor involution as vascular density decreases. Conclusion Our data reveal that the transcriptome of HEMECs is reflective of a pro-proliferative cell type with altered adhesive characteristics. Moveover, HEMECs show altered expression of many genes that are important in the progression and prognosis

  20. ACTH TREATMENT OF INFANTILE SPASMS: MECHANISMS OF ITS EFFECTS IN MODULATION OF NEURONAL EXCITABILITY

    PubMed Central

    Brunson, K. L.; Avishai-Eliner, S.; Baram, T. Z.

    2011-01-01

    The efficacy of ACTH, particularly in high doses, for rapid and complete elimination of infantile spasms (IS) has been demonstrated in prospective controlled studies. However, the mechanisms for this efficacy remain unknown. ACTH promotes the release of adrenal steroids (glucocorticoids), and most ACTH effects on the central nervous system have been attributed to activation of glucocorticoid receptors. The manner in which activation of these receptors improves IS and the basis for the enhanced therapeutic effects of ACTH — compared with steroids — for this disorder are the focus of this chapter. First, a possible “common excitatory pathway,” which is consistent with the many etiologies of IS and explains the confinement of this disorder to infancy, is proposed. This notion is based on the fact that all of the entities provoking IS activate the native “stress system” of the brain. This involves increased synthesis and release of the stress-activated neuropeptide, corticotropin-releasing hormone (CRH), in limbic, seizure-prone brain regions. CRH causes severe seizures in developing experimental animals, as well as limbic neuronal injury. Steroids, given as therapy or secreted from the adrenal gland upon treatment with ACTH, decrease the production and release of CRH in certain brain regions. Second, the hypothesis that ACTH directly influences limbic neurons via the recently characterized melanocortin receptors is considered, focusing on the effects of ACTH on the expression of CRH. Experimental data showing that ACTH potently reduces CRH expression in amygdala neurons is presented. This downregulation was not abolished by experimental elimination of steroids or by blocking their receptors and was reproduced by a centrally administered ACTH fragment that does not promote steroid release. Importantly, selective blocking of melanocortin receptors prevented ACTH-induced downregulation of CRH expression, providing direct evidence for the involvement of these

  1. Variable outcome in infantile-onset inflammatory bowel disease in an Asian cohort

    PubMed Central

    Lee, Way Seah; Ng, Ruey Terng; Chan, Koon-Wing; Lau, Yu-Lung

    2016-01-01

    AIM Infantile-onset inflammatory bowel disease (IO-IBD) with the onset of disease before 12 mo of age, is a different disease entity from childhood IBD. We aimed to describe the clinical features, outcome and role of mutation in interleukin-10 (IL-10) and interleukin-10 receptors (IL-10R) in Asian children with IO-IBD. METHODS All cases of IO-IBD, defined as onset of disease before 12 mo of age, seen at University Malaya Medical Center, Malaysia were reviewed. We performed mutational analysis for IL10 and IL10R genes in patients with presenting clinical features of Crohn’s disease (CD). RESULTS Six [13%; CD = 3, ulcerative colitis (UC) = 2, IBD-unclassified (IBD-U) = 1] of the 48 children (CD = 25; UC = 23) with IBD have IO-IBD. At final review [median (range) duration of follow-up: 6.5 (3.0-20) years], three patients were in remission without immunosuppression [one each for post-colostomy (IBD-U), after standard immunosuppression (CD), and after total colectomy (UC)]. Three patients were on immunosuppression: one (UC) was in remission while two (both CD) had persistent disease. As compared with later-onset disease, IO-IBD were more likely to present with bloody diarrhea (100% vs 55%, P = 0.039) but were similar in terms of an associated autoimmune liver disease (0% vs 19%, P = 0.31), requiring biologics therapy (50% vs 36%, P = 0.40), surgery (50% vs 29%, P = 0.27), or achieving remission (50% vs 64%, P = 0.40). No mutations in either IL10 or IL10R in the three patients with CD and the only patient with IBD-U were identified. CONCLUSION The clinical features of IO-IBD in this Asian cohort of children who were negative for IL-10 or IL-10R mutations were variable. As compared to childhood IBD with onset of disease after 12 mo of age, IO-IBD achieved remission at a similar rate. PMID:28082818

  2. [COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS].

    PubMed

    Guillén-López, Sara; Ibarra-González, Isabel; Belmont Martínez, Leticia; Juárez-Cruz, Merit Valeria; Vela-Amieva, Marcela

    2015-12-01

    Introducción: la cistinosis nefropática infantil (CNI) es una enfermedad genética debida a un defecto del transporte de la cistina, con la subsecuente acumulación de este aminoácido predominantemente en el riñón. Existen pocos estudios sobre la evaluación del estado nutricional en pacientes con esta patología, pero se sabe que tienen una excreción de carnitina urinaria aumentada, lo que puede dar como resultado una deficiencia plasmática y muscular de este compuesto; sin embargo, la suplementación de carnitina en CNI es controversial. Objetivo: comparar la concentración sanguínea de carnitina libre (C0) con el estado nutricional de una cohorte de pacientes con CNI. Material y métodos: evaluación antropométrica mediante la medición de peso, talla, perímetro braquial (PB) y pliegue cutáneo tricipital (PCT). La C0 se cuantificó mediante espectrometría de masas en tándem en muestras de sangre en ayuno. Resultados: se analizaron 10 pacientes con CNI, 5 con y 5 sin trasplante renal. De acuerdo con el IMC, 3/10 presentaron desnutrición. La reserva de masa magra se encontró baja en 8/10 pacientes (3 no trasplantados y todos los trasplantados). El PB mostró correlación con las concentraciones sanguíneas de C0 (r2 = 0,353); Los pacientes no trasplantados tuvieron niveles de C0 significativamente más bajos que los trasplantados (Chi2 = 0,0027). Conclusión: en esta población de pacientes con CNI se encontró un 70% de sujetos con C0 baja, que se correlaciona con la masa magra disminuida. Es recomendable hacer una evaluación nutricional de rutina que incluya los tres parámetros antropométricos como parte del seguimiento médico-nutricional integral de estos pacientes.

  3. Retrospective analysis of the relationship between infantile seborrheic dermatitis and atopic dermatitis.

    PubMed

    Alexopoulos, Alex; Kakourou, Talia; Orfanou, Irene; Xaidara, Athina; Chrousos, George

    2014-01-01

    A growing number of dermatologists dispute the existence of infantile seborrheic dermatitis (ISD) as an independent clinical entity. Therefore the aim of the present study was to estimate the epidemiologic features of ISD in a defined population of Greek children, assess its course, and identify associations, if any, with other common dermatoses of childhood. Children from the region of Athens who were examined and diagnosed with typical clinical features of ISD between 1997 and 2011 were included in the study. The relevant data were collected retrospectively from their medical records using a standardized form. Eighty-seven children were enrolled (50 boys, 37 girls; mean age 3.1 mos at the time of ISD diagnosis). The main body areas affected were the scalp and face for the majority of the children (78/87), whereas the trunk and limbs were less frequently involved (9/87). In all cases, erythema and scaling of affected patients were mild to moderate. Forty-nine of the 87 children were followed up over a period of 5 years. Thirty children in this group developed features of atopic dermatitis (AD) at a later stage, according to the UK diagnostic criteria of AD, and 23 of these children were diagnosed with AD, at an average time interval of 6.4 months from ISD onset, and seven presented with clinical features of AD at the time of ISD diagnosis. The remaining 19 children in the follow-up group progressed without developing any other chronic skin disease, and all recovered within 6 months of its onset. Thirty-eight had no further follow-up after their initial ISD diagnosis. In spite of the lack of information on the disease course for the last group, assuming they all recovered, the prevalence of AD (34.4%) in our ISD sample was significantly higher than the prevalence of AD (10.7%) in the general population for the same age group, as shown in a previous study performed in the municipality of Athens (p < 0.001). A significant number of children were found to develop AD

  4. Infantile hemangioma-derived stem cells and endothelial cells are inhibited by class 3 semaphorins

    SciTech Connect

    Nakayama, Hironao; Huang, Lan; Kelly, Ryan P.; Oudenaarden, Clara R.L.; Dagher, Adelle; Hofmann, Nicole A.; Moses, Marsha A.; Bischoff, Joyce; Klagsbrun, Michael

    2015-08-14

    Class 3 semaphorins were discovered as a family of axon guidance molecules, but are now known to be involved in diverse biologic processes. In this study, we investigated the anti-angiogenic potential of SEMA3E and SEMA3F (SEMA3E&F) in infantile hemangioma (IH). IH is a common vascular tumor that involves both vasculogenesis and angiogenesis. Our lab has identified and isolated hemangioma stem cells (HemSC), glucose transporter 1 positive (GLUT1{sup +}) endothelial cells (designated as GLUT1{sup sel} cells) based on anti-GLUT1 magnetic beads selection and GLUT1-negative endothelial cells (named HemEC). We have shown that these types of cells play important roles in hemangiogenesis. We report here that SEMA3E inhibited HemEC migration and proliferation while SEMA3F was able to suppress the migration and proliferation in all three types of cells. Confocal microscopy showed that stress fibers in HemEC were reduced by SEMA3E&F and that stress fibers in HemSC were decreased by SEMA3F, which led to cytoskeletal collapse and loss of cell motility in both cell types. Additionally, SEMA3E&F were able to inhibit vascular endothelial growth factor (VEGF)-induced sprouts in all three types of cells. Further, SEMA3E&F reduced the level of p-VEGFR2 and its downstream p-ERK in HemEC. These results demonstrate that SEMA3E&F inhibit IH cell proliferation and suppress the angiogenic activities of migration and sprout formation. SEMA3E&F may have therapeutic potential to treat or prevent growth of highly proliferative IH. - Highlights: • SEMA3E&F reduce actin stress fibers and induce cytoskeletal collapse in HemEC. • SEMA3E&F inhibit angiogenic activities of HemEC. • SEMA3E&F can interrupt the VEGF-A-VEGFR2-ERK signaling pathway in HemEC. • Plexin D1 and NRP2 are induced during HemSC/GLUT1{sup sel}-to-EC differentiation.

  5. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

    PubMed

    Thomas, Shery; Proudlock, Frank A; Sarvananthan, Nagini; Roberts, Eryl O; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A S Anil; Farooq, Shegufta J; Degg, Chris; Gale, Richard P; Reinecke, Robert D; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F Lucy; Gottlob, Irene

    2008-05-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subjects without mutations but with clinical IIN (non-FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar (FRMD7: 7.8%, non-FRMD7: 10%). The presence of anomalous head posture (AHP) was significantly higher in the non-FRMD7 group (P < 0.0001). The amplitude of nystagmus was more strongly dependent on the direction of gaze in the FRMD7 group being lower at primary position (P < 0.0001), compared to non-FRMD7 group (P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group (P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VA's in affected females were slightly better compared to affected males (P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non-FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

  6. A novel serotype of enteropathogenic Escherichia coli (EPEC) as a major pathogen in an outbreak of infantile diarrhoea.

    PubMed

    Barlow, R S; Hirst, R G; Norton, R E; Ashhurst-Smith, C; Bettelheim, K A

    1999-12-01

    An outbreak of infantile diarrhoea was investigated in 32 children, all <2 years old, in the tropical north of Australia. Rotavirus (63%) and enteropathogenic Escherichia coli (EPEC) (59%) were the most common pathogens identified. Of the 19 EPEC isolates, 14 (74%) were of serotype O126:H12, hitherto unreported as an EPEC serotype. Other pathogens isolated included Salmonella spp. (16%), Campylobacter spp. (3%), Giardia (3%) and Shigella spp. (3%). EPEC-related gastro-enteritis is an uncommon but recognised cause of diarrhoeal outbreaks in Australia and clinicians need to be aware of the possibility of this serotype being implicated. This report highlights the disadvantages of relying on serotyping alone for the recognition of EPEC.

  7. Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

    PubMed

    Vinther-Jensen, Tua; Ek, Jakob; Duno, Morten; Skovby, Flemming; Hjermind, Lena E; Nielsen, Jørgen E; Nielsen, Troels Tolstrup

    2013-06-01

    The spinocerebellar ataxias (SCA) are a genetically and clinically heterogeneous group of diseases, characterized by dominant inheritance, progressive cerebellar ataxia and diverse extracerebellar symptoms. A subgroup of the ataxias is caused by unstable CAG-repeat expansions in their respective genes leading to pathogenic expansions of polyglutamine stretches in the encoded proteins. In general, unstable CAG repeats have an uninterrupted CAG repeat, whereas stable CAG repeats are either short or interrupted by CAA codons, which - like CAG codons - code for glutamine. Here we report on an infantile SCA2 patient who, due to germ-line CAG repeat instability in her father, inherited an extremely expanded CAG repeat in the SCA2 locus. Surprisingly, the expanded allele of the father was an interrupted CAG repeat sequence. Furthermore, analyses of single spermatozoa showed a high frequency of paternal germ-line repeat sequence instability of the expanded SCA2 locus.

  8. [The Laboratório de Biologia Infantil, 1935-1941: from forensic medicine to social assistance].

    PubMed

    Silva, Renato da

    2011-12-01

    This analysis of the history of the Laboratório de Biologia Infantil (Children's Biology Laboratory) discusses topics related to childhood and adolescence published in the Arquivos de Medicina Legal e Identificação do Rio de Janeiro. It underscores the political-institutional and intellectual contexts that prompted the 1930s debate about childhood among physicians, teachers, educators, and politicians, with a special focus on Leonídio Ribeiro, founder and first editor of the journal. The Laboratório inaugurated a medical and scientific routine for studying, treating, and providing assistance within institutions that had been created to repress, care for, and cure, and as such it represented an important chapter in the history of so-called abandoned and delinquent childhood.

  9. Epidemiologic evidence supporting the role of maternal vitamin D deficiency as a risk factor for the development of infantile autism

    PubMed Central

    Soles, Connie M

    2009-01-01

    This study examines whether maternal vitamin D deficiency is a risk factor for infantile autism disease (IAD). We used epidemiologic data seasonal variation of birth rates and prevalence of IAD for cohorts born before 1985. For seven studies reporting spring-to-summer excess birth rates for IAD, the season progressed from broad near 30° N latitude, spring/summer in midlatitudes, to winter at the highest latitude. Also, using data from 10 studies, we found a strong effective latitudinal (related to wintertime solar ultraviolet B radiation) increase in IAD prevalence. These findings are consistent with maternal vitamin D deficiency’s being a risk factor for IAD, possibly by affecting fetal brain development as well as possibly by affecting maternal immune system status during pregnancy. Further investigation of this hypothesis is warranted. PMID:20592795

  10. [Annual distribution of serotypes of Salmonella, Shigella, and infantile enteropathogenic Escherichia coli in the Republic of Argentina, 1979-1981].

    PubMed

    Eiguer, T; Butta, N

    1983-01-01

    We report data of isolation of 3,665 strains of Salmonella, 1,855 of Shigella and 697 of E. coli infantile enteropathogenic (EPI) from different sources: human, animal, food and water, in Argentina during the triennium 1979-1981, considering their importance in the chain of transmission of enterobacteria. It appears that S. typhimurium is the most common among all the isolated serotypes of Salmonella, following in order of importance, S. oranienburg, S. derby, S. panama, S. agona, S. anatum, S. newport, S. bredeney and S. montevideo. It is important to emphasize the appearance of new Shigella serotypes in Argentina, particularly Sh. dysenteriae 2. We found that E. coli EPI 0111:B4 was the most frequent serotype and in 1981 the serotype 0112:B13 was also found.

  11. A Valid Indication and the Effect of Bilateral Inferior Oblique Transposition on Recurrent or Consecutive Horizontal Deviation in Infantile Strabismus

    PubMed Central

    Ha, Suk-Gyu; Na, Gun-Hoo

    2017-01-01

    Purpose To evaluate the effects of bilateral inferior oblique transposition (BIOT) on horizontal deviation from primary position among patients with bilateral dissociated vertical deviation (DVD) associated with inferior oblique overaction (IOOA) in infantile strabismus. Methods Retrospective chart review was conducted among 19 patients with infantile strabismus. All patients had DVD and IOOA with consecutive or recurrent horizontal deviation and underwent modified BIOT surgery. Patients were divided into three subgroups: patients who underwent BIOT (BIOT group, n = 9) alone, BIOT with medial rectus recession or lateral rectus resection simultaneously (ET BIOT group, n = 6), or BIOT with lateral rectus recession or medial rectus resection simultaneously (XT BIOT group, n = 4). Postoperative angle of horizontal deviation (prism diopter, PD) and corrected magnitude of horizontal deviation (PD) at final visit after surgery were analyzed in each group. Results The mean age was 55.11 ± 21.05 months (range, 32 to 115). The mean follow-up period was 8.68 ± 2.87 months (range, 6 to 18). Preoperative horizontal deviation was 4.23 ± 5.99 PD (range, 0 to 16) in BIOT, −17.33 ± 6.76 PD (range, −30 to −10) in ET BIOT, and 17.50 ± 2.52 PD (range, 14 to 20) in XT BIOT. Esodeviation is represented by negative values. DVD and IOOA were reduced less than +1 in all patients. The corrected amount of horizontal deviation was 3.56 ± 5.18 PD (range, 0 to 16) in BIOT surgery alone and larger in XT BIOT (18.50 ± 3.41 PD) than in ET BIOT (12.33 ± 5.57 PD, p = 0.004). Conclusions Minimal exodeviation was corrected by BIOT alone. In addition, secondary eso- or exodeviation at great magnitudes should be corrected with proper horizontal muscle surgery along with BIOT. PMID:28367042

  12. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    PubMed Central

    Paciorkowski, Alex R; Thio, Liu Lin; Rosenfeld, Jill A; Gajecka, Marzena; Gurnett, Christina A; Kulkarni, Shashikant; Chung, Wendy K; Marsh, Eric D; Gentile, Mattia; Reggin, James D; Wheless, James W; Balasubramanian, Sandhya; Kumar, Ravinesh; Christian, Susan L; Marini, Carla; Guerrini, Renzo; Maltsev, Natalia; Shaffer, Lisa G; Dobyns, William B

    2011-01-01

    Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic synapses and the postsynaptic density. Third, we confirm the association of ISS with duplication of 14q12 and maternally inherited duplication of 15q11q13, and report the association with duplication of 21q21. We also present a patient with ISS and deletion 7q11.3 not involving MAGI2. Finally, we provide evidence that ISS in deletion 1p36 may be associated with deletion of KLHL17 and expand the epilepsy phenotype in that syndrome to include early infantile epileptic encephalopathy. Several of the identified pathways share functional links, and abnormalities of forebrain synaptic growth and function may form a common biologic mechanism underlying both ISS and autism. This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis. PMID:21694734

  13. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

    PubMed

    Montalvo, Anna Lisa E; Filocamo, Mirella; Vlahovicek, Kristian; Dardis, Andrea; Lualdi, Susanna; Corsolini, Fabio; Bembi, Bruno; Pittis, Maria Gabriela

    2005-09-01

    Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the hexosaminidase A deficiency. We report the molecular characterization performed on 31 Italian patients, 22 with the infantile, acute form of TSD and nine patients with the subacute juvenile form, biochemically classified as B1 Variant. Of the 29 different alleles identified, fourteen were due to 15 novel mutations, two being in-cis on a new complex allele. The new alleles caused four frameshifts, three premature stop codons, three amino acid changes, two amino acid deletions and two splicing alterations. As previously reported, the c.533G>A (p.R178H) mutation was present either in homozygosity or as compound heterozygote, in all the patients with the late onset TSD form (B1 Variant); the allele frequency in this group is discussed by comparison with that found in infantile TSD.

  14. Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

    PubMed Central

    Yamamoto, Toshiyuki; Shimojima, Keiko; Shibata, Takashi; Akiyama, Mari; Oka, Makio; Akiyama, Tomoyuki; Yoshinaga, Harumi; Kobayashi, Katsuhiro

    2015-01-01

    Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus. PMID:27081553

  15. Legionella pneumophila and Pneumocystis jirovecii coinfection in an infant treated with adrenocorticotropic hormone for infantile spasm: case report and literature review.

    PubMed

    Musallam, Nadira; Bamberger, Ellen; Srugo, Isaac; Dabbah, Husein; Glikman, Daniel; Zonis, Zeev; Kessel, Aharon; Genizi, Jacob

    2014-02-01

    We describe an 8-month-old infant with infantile spasms treated with adrenocorticotropic hormone (ACTH) who presented with fatal Legionella pneumophila and Pneumocystis jirovecii infection. Emphasis is placed on the ensuing immunosuppression and infectious sequelae of ACTH therapy. Given that ACTH therapy may increase the risk of fatal infection, patients undergoing such treatment should be closely monitored, with particular attention paid to the functioning of the immune system.

  16. Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

    PubMed

    Tanaka, Akemi; Hoang, Lan Thi Ngcok; Nishi, Yasuaki; Maniwa, Satoshi; Oka, Makio; Yamano, Tsunekazu

    2003-01-01

    Eight mutations of the alpha subunit of beta-hexosaminidase A gene ( HEXA) were identified in eight patients with GM2 gangliosidosis variant B. They were five missense mutations, two splice-site mutations, and one two-base deletion. Five of them, R252L (CGT-->CTT), N295S (AAT-->AAC), W420C (TGG-->TGT), IVS 13, +2A-->C, and del 265-266AC (exon 2), were novel mutations responsible for infantile acute form of GM2 gangliosidosis. Two missense mutations, R499H and R499C, were found in one allele of two patients with attenuated phenotypes. The patient with R499C showed a late infantile form, and the other patient with R499H showed a juvenile form. These two mutations have been reported previously in the patients of other ethnic groups, and they have been known to cause attenuated phenotypes. The milder phenotypes of GM2 gangliosidosis variant B, different from the infantile acute form, have not been reported so far in Japan, and this is the first report of Japanese patients with attenuated phenotypes and their molecular analysis.

  17. Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

    PubMed Central

    Kondo, Daiki; Harada, Kouji H.; Youssefian, Shohab; Shioi, Hirotomo; Kabata, Risako; Domon, Yuki; Kubota, Kazufumi; Kitano, Yutaka; Takayama, Yasunori; Hitomi, Toshiaki; Ohno, Kousaku; Saito, Yoshiaki; Asano, Takeshi; Tominaga, Makoto

    2016-01-01

    Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic study in six unrelated multigenerational Japanese families with episodic pain syndrome. Affected participants (n = 23) were characterized by infantile recurrent pain episodes with spontaneous mitigation around adolescence. This unique phenotype was inherited in an autosomal-dominant mode. Linkage analysis was performed for two families with 12 affected and nine unaffected members, and a single locus was identified on 3p22 (LOD score 4.32). Exome analysis (n = 14) was performed for affected and unaffected members in these two families and an additional family. Two missense variants were identified: R222H and R222S in SCN11A. Next, we generated a knock-in mouse model harboring one of the mutations (R222S). Behavioral tests (Hargreaves test and cold plate test) using R222S and wild-type C57BL/6 (WT) mice, young (8–9 weeks old; n = 10–12 for each group) and mature (36–38 weeks old; n = 5–6 for each group), showed that R222S mice were significantly (p < 0.05) more hypersensitive to hot and cold stimuli than WT mice. Electrophysiological studies using dorsal root ganglion neurons from 8–9-week-old mice showed no significant difference in resting membrane potential, but input impedance and firing frequency of evoked action potentials were significantly increased in R222S mice compared with WT mice. However, there was no significant difference among Nav1.9 (WT, R222S, and R222H)-overexpressing ND7/23 cell lines. These results suggest that our novel mutation is a gain-of-function mutation that causes infantile familial episodic pain. The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations

  18. [The role of microcurrent reflexotherapy in combination with neuroprotector in the rehabilitation of the patients with infantile cerebral palsy].

    PubMed

    Ukhanova, T A; Noivikova, E E; Dement'eva, E V

    2012-01-01

    The objective of the present study was to estimate the therapeutic efficacy of the combined treatment of infantile cerebral palsy by means of microcurrent reflexotherapy (MCRT) in combination with the neuroprotector cortexin. This treatment including 15 sessions with the use of a MAKS apparatus was given to 69 children at the age from 3 to 7 years. They were randomly allocated to two groups. The patients of group 1 underwent three courses of MCRT and two courses of cortexin therapy in conjunction with massage and remedial gymnastics, those in group 2 were treated with massage and remedial gymnastics alone. Positive dynamics in the patients' clinical conditions was documented in the end of the rehabilitative program. Specifically, 60.5% of the children in group 1 developed the ability to walk unassisted compared with 38.6% in group 2. Positive changes in the brain functional status were documented, based on the results of the electroencephalographic study, in 21 (71%) and 16 (53%) children of groups 1 and 2 respectively.

  19. [An evaluation of the 4 years of the Oral Rehydration Service of the Hospital Infantil de Monterrey].

    PubMed

    Muraira-Gutiérrez, A; Méndez-Jara, A; Ruiz-Villalpando, G

    1992-06-01

    At four years of being founded the Service of Oral Hydration from Hospital Infantil de Monterrey, we carried out this investigation to know its productivity, to determine costs of internments, death rates due to diarrhea and dehydration in the hospital and at a State level. The statistics from the hospital were revised in the previous and subsequent years to the institution of the Service in September of 1986, so as the statistics of death due to diarrhea from the State Health Department. The cases attended were 12,139, from which 9,024 belonged to plan A, 2,983 to plan B and 72 to plan C. Three hundred (300) doctors were trained and nine (9) research studies were accomplished. A decrease was achieved from the hospital rate admission by diarrhea and dehydration, throw the oral dehydration therapy in a 66%, the mortality rate was reduced 72% and an expenditure of $619,243,480.00 pesos in drugs and auxiliary examinations of diagnostic was avoided. At a State level the general death rate due to diarrhea got a cutdown of 13.1 to 5.8, and in infants under a year old decreased from 275 to 122.3. The oral hydration therapy applied in the State seems to be the main reason in that results.

  20. PRX-00023, a selective serotonin 1A receptor agonist, reduces ultrasonic vocalizations in infant rats bred for high infantile anxiety.

    PubMed

    Brunelli, Susan A; Aviles, Jessica A; Gannon, Kimberly S; Branscomb, Aron; Shacham, Sharon

    2009-11-01

    To address the development of early anxiety disorders across the lifespan, the High USV line of rats was bred based on rates of infant ultrasonic vocalization in the 40-50 kHz range of predominant frequencies (USV) to maternal separation at postnatal day (P) 10. In this study, rates of USV in High line infants (pups: Postnatal Day 11+/-1) were compared to those of randomly-bred controls in response to EPIX compound PRX-00023, a unique serotonin (5-HT) agonist, acting exclusively at the 5-HT1A receptor, or buspirone, a nonspecific 5HT1A agonist. After testing, pups were examined for sedation and other drug-related effects. The results indicated that all doses of buspirone reduced USV rates in isolation, consistent with other reports. PRX-00023 significantly reduced USV rates at the lowest doses (0.01-0.05 mg/kg). None of the PRX-00023 doses produced sedation, whereas all but the lowest dose of buspirone (0.1 mg/kg) produced sedation effects. The results suggest that this compound alleviates infantile anxiety-like behavior with great specificity in rats bred for high anxiety/depressive phenotypes by selectively targeting 5-HT1A receptors, possibly by both pre- and post-synaptic mechanisms.

  1. Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1

    PubMed Central

    Lee, Hyun Hee

    2016-01-01

    Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9. PMID:28018440

  2. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

    PubMed Central

    Cartault, François; Munier, Patrick; Benko, Edgar; Desguerre, Isabelle; Hanein, Sylvain; Boddaert, Nathalie; Bandiera, Simonetta; Vellayoudom, Jeanine; Krejbich-Trotot, Pascale; Bintner, Marc; Hoarau, Jean-Jacques; Girard, Muriel; Génin, Emmanuelle; de Lonlay, Pascale; Fourmaintraux, Alain; Naville, Magali; Rodriguez, Diana; Feingold, Josué; Renouil, Michel; Munnich, Arnold; Westhof, Eric; Fähling, Michael; Lyonnet, Stanislas; Henrion-Caude, Alexandra

    2012-01-01

    The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate. Complete DNA sequencing of the 400-kb linkage locus revealed a point mutation in a primate-specific retrotransposon that was transcribed as part of a unique noncoding RNA, which was expressed in the brain. In vitro knockdown of this RNA increased neuronal apoptosis, consistent with the inappropriate dosage of this RNA in vivo and with the phenotype. Moreover, structural analysis of the sequence revealed a small RNA-like hairpin that was consistent with the putative gain of a functional site when mutated. We show here that a mutation in a unique transposable element-containing RNA is associated with lethal encephalopathy, and we suggest that RNAs that harbor evolutionarily recent repetitive elements may play important roles in human brain development. PMID:22411793

  3. Ethanol exposure during late gestation and nursing in the rat: Effects upon maternal care, ethanol metabolism and infantile milk intake

    PubMed Central

    Pueta, Mariana; Abate, Paula; Haymal, Olga B.; Spear, Norman E.; Molina, Juan C.

    2008-01-01

    Ethanol experiences, during late gestation as well as during nursing, modify the behavioral dynamics of the dam/pup dyad, and leads to heightened ethanol intake in the offspring. This study focuses on: a) behavioral and metabolic changes in intoxicated dams with previous exposure to ethanol during pregnancy and b) infantile consumption of milk when the dam is either under the effects of ethanol or sober. Pregnant rats received water, 1.0 or 2.0 g/kg ethanol, and were administered with water or ethanol during the postpartum period. Intoxication during nursing disrupted the capability of the dam to retrieve the pups and to adopt a crouching posture. These disruptions were attenuated when dams had exposure to ethanol during pregnancy. Ethanol experiences during gestation did not affect pharmacokinetic processes during nursing, whereas progressive postpartum ethanol experience resulted in metabolic tolerance. Pups suckling from intoxicated dams, with previous ethanol experiences, ingested more milk than did infants suckling from ethanol-intoxicated dams without such experience. Ethanol gestational experience results in subsequent resistance to the drug’s disruptions in maternal care. Consequently, better maternal care by an intoxicated dam with ethanol experience during gestation facilitates access of pups to milk which could be contaminated with ethanol. PMID:18602418

  4. Infantile postnatal exposure to lead (Pb) enhances tau expression in the cerebral cortex of aged mice: relevance to AD.

    PubMed

    Bihaqi, Syed Waseem; Bahmani, Azadeh; Adem, Abdu; Zawia, Nasser H

    2014-09-01

    The sporadic nature in over 90% of Alzheimer's disease (AD) cases, the differential susceptibility and course of illness, and latent onset of the disease suggest involvement of an environmental component in the etiology of late onset AD (LOAD). Recent reports from our lab have demonstrated that molecular alterations favor abundant tau phosphorylation and immunoreactivity in the frontal cortex of aged primates with infantile lead (Pb) exposure (Bihaqi and Zawia, 2013). Here we report that developmental Pb exposure results in elevation of protein and mRNA levels of tau in aged mice. Western blot analysis revealed aberrant site-specific tau hyperphosphorylation accompanied by elevated cyclin dependent kinase 5 (CDK5) levels in aged mice with prior Pb exposure. Mice with developmental Pb exposure also displayed altered protein ratio of p35/p25 with more Serine/Threonine phosphatase activity at old age. These changes favored increase in tau phosphorylation, thus providing evidence that neurodegenerative diseases may be in part due to environmental influences that occur during development.

  5. Comparing surgical outcomes of complete thoracoscopic lobectomy for congenital cystic lung disease between neonatal and infantile patients

    PubMed Central

    Tainaka, Takahisa; Uchida, Hiroo; Tanaka, Yujiro; Shirota, Chiyoe; Yokota, Kazuki; Murase, Naruhiko; Oshima, Kazuo; Shirotsuki, Ryo; Chiba, Kosuke; Hinoki, Akinari

    2016-01-01

    ABSTRACT Thoracoscopic lobectomy has recently become a widely used surgical treatment for congenital cystic lung disease, but significant issues can arise in some cases, such as a limited working space in neonates, a limited view in cases involving large cystic lesions. We reviewed the treatment outcomes of neonates that underwent complete thoracoscopic lobectomy or segmentectomy and evaluated the operative difficulties. From January 2008 to October 2015, 38 patients under the age of 1 year underwent complete thoracoscopic lobectomy or segmentectomy for cystic lung disease at our institution. We compared the intra- and postoperative data of the neonate group (N group) with those of the infant group (I group). Fourteen and 24 patients underwent thoracoscopic lobectomy or segmentectomy in the N group and I group, respectively. The operative time and amount of intraoperative blood loss did not differ significantly between the two groups (p=0.694 and p=0.878, respectively), but the duration of the postoperative hospitalization period was significantly longer (p<0.01) in the N group. The frequencies of postoperative complications did not differ significantly between the two groups. The operative time of thoracoscopic lobectomy was significantly longer in cases involving incomplete lobar fissures than in those involving normal lobar fissures. Surgical outcomes of complete thoracoscopic lobectomy for neonatal cases are almost equivalent compared with infantile cases, and thoracoscopic lobectomy takes longer in cases involving incomplete lobar fissures. PMID:28008200

  6. A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus

    PubMed Central

    Choi, Jae-Hwan; Shin, Jin-Hong; Seo, Je Hyun; Jung, Jae-Ho; Choi, Kwang-Dong

    2015-01-01

    Idiopathic infantile nystagmus (IIN) is the involuntary oscillation of the eyes with onset in the first few months of life. The most common form of inheritance is X-linked, and mutations in FRMD7 gene are a major cause. To identify the FRMD7 gene mutations associated with X-linked IIN, we performed PCR-based DNA direct sequencing in 4 affected subjects from 2 Korean families. We also assessed structural abnormalities of retina and optic nerve head using optical coherence tomography (OCT). Genetic analysis revealed a A>G transversion at nucleotide c.1, the first base of the start codon. This mutation leads to the loss of the primary start codon ATG for methionine, which is replaced by a triplet GTG for valine. The alternative in-frame start codon is not present around a mutation. OCT revealed the morphological changes within the optic nerve head, including shallow cup depth and small cup-to-disc ratio. In summary, we identified a novel start codon mutation within the FRMD7 gene of 2 Korean families. Our data expands the mutation spectrum of FRMD7 causing IIN. We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using OCT, which may help to understand the etiological factor in development of nystagmus. PMID:26268155

  7. Combined distal tibial rotational osteotomy and proximal growth plate modulation for treatment of infantile Blount’s disease

    PubMed Central

    Abdelgawad, Amr A

    2013-01-01

    Infantile Blount’s disease is a condition that causes genu varum and internal tibial torsion. Treatment options include observation, orthotics, corrective osteotomy, elevation of the medial tibial plateau, resection of a physeal bar, lateral hemi-epiphysiodesis, and guided growth of the proximal tibial physis. Each of these treatment options has its disadvantages. Treating the coronal deformity alone (genu varum) will result in persistence of the internal tibial torsion (the axial deformity). In this report, we describe the combination of lateral growth modulation and distal tibial external rotation osteotomy to correct all the elements of the disease. This has not been described before for treatment of Blount’s disease. Both coronal and axial deformities were corrected in this patient. We propose this combination (rather than the lateral growth modulation alone) as the method of treatment for early stages of Blount’s disease as it corrects both elements of the disease and in the same time avoids the complications of proximal tibial osteotomy. PMID:23610758

  8. PHACE without face? Infantile hemangiomas of the upper body region with minimal or absent facial hemangiomas and associated structural malformations.

    PubMed

    Nabatian, Adam S; Milgraum, Sandy S; Hess, Christopher P; Mancini, Anthony J; Krol, Alfons; Frieden, Ilona J

    2011-01-01

    Infantile hemangiomas can be associated with congenital anomalies such as PHACE syndrome with facial hemangiomas and genitourinary and spinal anomalies in the setting of lower body hemangiomas. We describe five infants in whom segmental hemangiomas involving the upper torso and extremities with absent or small facial hemangiomas were associated with structural anomalies similar to those reported with PHACE syndrome, including three with structural arterial anomalies of the subclavian arteries, three with aortic arch anomalies (right sided or narrowed arch), two with congenital heart disease (atrial septal defect and ventricular septal defect; tetralogy of Fallot), one with a retinal scar, and one with a sternal defect (scar). Two of five had small facial hemangiomas of the lower lip, but none had large segmental hemangiomas of the face. Three of five would have met diagnostic criteria for PHACE but lacked a facial hemangioma of 5 cm in diameter or greater. Patients with segmental arm and thorax hemangiomas may have associated structural abnormalities with overlapping features of PHACE, suggesting that a similar syndrome can occur in this clinical setting.

  9. Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

    PubMed Central

    Gulsuner, Suleyman; Stapleton, Gail A.; Walsh, Tom; Lee, Ming K.; Mandell, Jessica B.; Morales, Augusto; Klevit, Rachel E.; King, Mary-Claire; Rogers, R. Curtis

    2016-01-01

    Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well as milder and more severe phenotypes. We present a 13-year-old girl with ataxia, severe hearing loss, optic atrophy, peripheral neuropathy, and hypergonadotropic hypogonadism. Whole-exome sequencing revealed that the patient is compound heterozygous for previously unreported variants in the C10orf2 gene: a paternally inherited frameshift variant (c.333delT; p.L112Sfs*3) and a maternally inherited missense variant (c.904C>T; p.R302W). The identification of novel C10orf2 mutations extends the spectrum of mutations in the Twinkle helicase causing recessive disease, in particular the intermediate IOSCA phenotype. Structural modeling suggests that the p.R302W mutation and many other recessively inherited Twinkle mutations impact the position or interactions of the linker region, which is critical for the oligomeric ring structure and activity of the helicase. This study emphasizes the utility of whole-exome sequencing for the genetic diagnosis of a complex multisystemic disorder. PMID:27551684

  10. Identification of Signaling Systems in Proliferating and Involuting Phase Infantile Hemangiomas by Genome-Wide Transcriptional Profiling

    PubMed Central

    Calicchio, Monica L.; Collins, Tucker; Kozakewich, Harry P.

    2009-01-01

    Infantile hemangiomas are characterized by rapid capillary growth during the first year of life followed by involution during early childhood. The natural history of these lesions creates a unique opportunity to study the changes in gene expression that occur in the vessels of these tumors as they proliferate and regress. Here we use laser capture microdissection and genome-wide transcriptional profiling of vessels from proliferating and involuting hemangiomas to identify differentially expressed genes. Relative to normal placental vessels, proliferating hemangiomas were characterized by increased expression of genes involved in endothelial-pericyte interactions, such as angiopoietin-2 (ANGPT2), jagged-1 (JAG1), and notch-4 (NOTCH4), as well as genes involved in neural and vascular patterning, such as neuropilin-2 (NETO2), a plexin domain containing receptor (plexinC1), and an ephrin receptor (EPHB3). Insulin-like growth factor binding protein-3 (IGFBP3) was down-regulated in proliferating hemangiomas. Involuting hemangiomas were characterized by the expression of chronic inflammatory mediators, such as the chemokine, stromal cell-derived factor-1 (SDF-1), and factors that may attenuate the angiogenic response, such as a member of the Down syndrome critical region (DSCR) family. The identification of genes differentially expressed in proliferating and involuting hemangiomas in vivo will contribute to our understanding of this vascular lesion, which remains a leading cause of morbidity in newborn children. PMID:19349369

  11. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

    PubMed

    Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

    2017-02-02

    Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10(-14)). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1.

  12. [The influence of space loading suits on interhemispheric asymmetry of the brain in infantile spastic cerebral palsy].

    PubMed

    Iavorskiĭ, A B; Sologubov, E G; Kobrin, V I; Sinel'nikova, A N; Nemkova, S A

    1998-01-01

    The paper presents the study concerning influence of somatosensory stimulation (single wearing of either space loading costume "PENGUIN" or its modification--"ADELY" costume) on the individual profile of interhemispheral cerebral assymmetry (IPIHCA) in patients with spastic form of infantile cerebral paralysis (ICP). The computer stabilograph analyzed motor arms' asymmetry, sensory asymmetry of visual hemiareas, asymmetry of the position of centre of gravity. It is shown that peculiarities of the realization of the standing position either with visual control or without it both in healthy individuals and in patients depended on initial IPIHCA. Initial stability was higher in healthy individuals than in patients, besides in healthy persons it was higher in right-handers while in patients--in left-handers. There was possibility of changes of both IPIHCA and stability during keeping up vertical position even during single somatosensory stimulation. For elaboration of new criteria of the estimation of the efficiency of treatment in patients with CNS damages, including ICP, it is necessary to take into consideration different influence of somatosensory stimulation on IPIHC in right-handers and left-handers.

  13. Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

    PubMed

    Schlotawa, Lars; Radhakrishnan, Karthikeyan; Baumgartner, Matthias; Schmid, Regula; Schmidt, Bernhard; Dierks, Thomas; Gärtner, Jutta

    2013-09-01

    Multiple sulfatase deficiency (MSD) is a rare inborn error of metabolism affecting posttranslational activation of sulfatases by the formylglycine generating enzyme (FGE). Due to mutations in the encoding SUMF1 gene, FGE's catalytic capacity is impaired resulting in reduced cellular sulfatase activities. Both, FGE protein stability and residual activity determine disease severity and have previously been correlated with the clinical MSD phenotype. Here, we report a patient with a late infantile severe course of disease. The patient is compound heterozygous for two so far undescribed SUMF1 mutations, c.156delC (p.C52fsX57) and c.390A>T (p.E130D). In patient fibroblasts, mRNA of the frameshift allele is undetectable. In contrast, the allele encoding FGE-E130D is expressed. FGE-E130D correctly localizes to the endoplasmic reticulum and has a very high residual molecular activity in vitro (55% of wildtype FGE); however, it is rapidly degraded. Thus, despite substantial residual enzyme activity, protein instability determines disease severity, which highlights that potential MSD treatment approaches should target protein folding and stabilization mechanisms.

  14. Diffuse Infantile Hepatic Hemangioendothelioma With Early Central Enhancement in an Adult: A Case Report of CT and MRI Findings.

    PubMed

    Dong, Aisheng; Dong, Hui; Zuo, Changjing; He, Tianlin

    2015-12-01

    Infantile hepatic hemangioendothelioma (IHH) is the most common vascular tumor of the liver in infancy. Adult with IHH is extremely rare. We presented a diffuse IHH in an adult patient with computed tomography (CT) and magnetic resonance image (MRI) findings.A 39-year-old man was admitted to our hospital because of a 2-year history of abnormal liver function tests and a 7-day history of jaundice. Physical examination revealed enlarged liver. Unenhanced abdominal CT showed enlargement of the liver with diffuse hypodensity. Enhanced CT on the arterial phase revealed multiple centrally enhanced lesions diffusely involved the enlarged liver. The enhanced areas of the lesions became larger on the portal phase and all the lesions became homogeneous enhanced on the delayed phase. These lesions showed heterogeneously hyperintense on T2-weighted image, hypointense on T1-weighted image, and early centrally enhanced on dynamic gadolinium-enhanced MRI, with complete tumor enhancement after 180 s. The patient underwent orthotopic liver transplantation. IHH type 2 was confirmed by pathology. The patient died of tumor recurrence in the liver 4 months after transplantation.Unlike the previously described imaging appearances of IHH, this case showed diffuse nodules with early central enhancement on CT and MRI. Considering the importance of the ability to differentiate IHH from other hepatic tumors, radiologists should be aware of these imaging appearances to establish knowledge of the entire spectrum of IHH.

  15. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

    PubMed Central

    Conzelmann, E; Kytzia, H J; Navon, R; Sandhoff, K

    1983-01-01

    A sensitive assay was developed to assess the ability of extracts from cultured fibroblasts to catabolize ganglioside GM2, in the presence of the natural activator protein but without detergents. This method, which permitted the reliable determination of residual activities as low as 0.1% of normal controls, was then used to measure ganglioside GM2 hydrolase activities in fibroblasts from several hexosaminidase variants. The residual activities thus determined correlated well with the clinical status of the respective proband: infantile Tay-Sachs (0.1% of normal controls), late-infantile (0.5%), and adult GM2 gangliosidoses (2%-4%) and healthy probands with "low hexosaminidase" (11% and 20%). In contrast, beta-hexosaminidase A levels as measured with the synthetic substrate 4-MU-GlcNAc could not be relied on for diagnostic purposes (the late-infantile patient studied retained 80% of the activity of controls). PMID:6614006

  16. The Efficacy and Safety of the Probiotic Bacterium Lactobacillus reuteri DSM 17938 for Infantile Colic: A Meta-Analysis of Randomized Controlled Trials

    PubMed Central

    Wang, Ning; Sun, Fei; Wang, Lin; Liu, Xiao-Hong

    2015-01-01

    Objective To evaluate the efficacy and safety of Lactobacillus reuteri DSM 17938 for treating infantile colic. Methods A systematic literature retrieval was carried out to obtain randomized controlled trials of L. reuteri DSM 17938 for infantile colic. Trials were performed before May 2015 and retrieved from the PubMed, EMBASE, Cochrane library, CNKI, WanFang, VIP, and CBM databases. Data extraction and quality evaluation of the trials were performed independently by two investigators. A meta-analysis was performed using STATA version 12.0. Results Six randomized controlled trials of 423 infants with colic were included. Of these subjects, 213 were in the L. reuteri group, and 210 were in the placebo group. Lactobacillus reuteri increased colic treatment effectiveness at two weeks (RR = 2.84; 95% CI: 1.24–6.50; p = 0.014) and three weeks (relative risk [RR] = 2.33; 95% CI: 1.38–3.93; P = 0.002) but not at four weeks (RR = 1.41; 95% CI: 0.52–3.82; P = 0.498). Lactobacillus reuteri decreased crying time (min/d) at two weeks (weighted mean difference [WMD] = –42.89; 95% CI: –60.50 to –25.29; P = 0.000) and three weeks (WMD = –45.83; 95% CI: –59.45 to –32.21; P = 0.000). In addition, L. reuteri did not influence infants’ weight, length or head circumference and was not associated with serious adverse events. Conclusions Lactobacillus reuteri possibly increased the effectiveness of treatment for infantile colic and decreased crying time at two to three weeks without causing adverse events. However, these protective roles are usurped by gradual physiological improvements. The study is limited by the heterogeneity of the trials and should be considered with caution. Higher quality, multicenter randomized controlled trials with larger samples are needed. PMID:26509502

  17. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

    PubMed

    van Gelder, C M; van Capelle, C I; Ebbink, B J; Moor-van Nugteren, I; van den Hout, J M P; Hakkesteegt, M M; van Doorn, P A; de Coo, I F M; Reuser, A J J; de Gier, H H W; van der Ploeg, A T

    2012-05-01

    Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months -12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.

  18. Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

    PubMed

    Weber, Axel; Köhler, Angelika; Hahn, Andreas; Neubauer, Bernd; Müller, Ulrich

    2013-11-01

    Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.

  19. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

    PubMed

    Chong, Jessica X; Caputo, Viviana; Phelps, Ian G; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T; Ishak, Gisele E; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J; Ortiz-Gonzalez, Xilma R; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-04-07

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126(∗)] and c.1363A>T [p.Lys455(∗)]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume.

  20. Molecular Analysis and Test of Linkage between the FMR-1 Gene and Infantile Autism in Multiplex Families

    PubMed Central

    Hallmayer, Joachim; Pintado, Elizabeth; Lotspeich, Linda; Spiker, Donna; McMahon, William; Petersen, P. Brent; Nicholas, Peter; Pingree, Carmen; Kraemer, Helena C.; Wong, Dona Lee; Ritvo, Edward; Lin, Alice; Hebert, Joan; Cavalli-Sforza, Luigi L.; Ciaranello, Roland D.

    1994-01-01

    Approximately 2%–5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings, by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between −24 and −62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. PMID:7977358

  1. Tenotomy procedure alleviates the "slow to see" phenomenon in infantile nystagmus syndrome: model prediction and patient data.

    PubMed

    Wang, Z I; Dell'Osso, L F

    2008-06-01

    Our purpose was to perform a systematic study of the post-four-muscle-tenotomy procedure changes in target acquisition time by comparing predictions from the behavioral ocular motor system (OMS) model and data from infantile nystagmus syndrome (INS) patients. We studied five INS patients who underwent only tenotomy at the enthesis and reattachment at the original insertion of each (previously unoperated) horizontal rectus muscle for their INS treatment. We measured their pre- and post-tenotomy target acquisition changes using data from infrared reflection and high-speed digital video. Three key aspects were calculated and analyzed: the saccadic latency (Ls), the time to target acquisition after the target jump (Lt) and the normalized stimulus time within the cycle. Analyses were performed in MATLAB environment (The MathWorks, Natick, MA) using OMLAB software (OMtools, available from http://www.omlab.org). Model simulations were performed in MATLAB Simulink environment. The model simulation suggested an Lt reduction due to an overall foveation-quality improvement. Consistent with that prediction, improvement in Lt, ranging from approximately 200 ms to approximately 500 ms (average approximately 280 ms), was documented in all five patients post-tenotomy. The Lt improvement was not a result of a reduced Ls. INS patients acquired step-target stimuli faster post-tenotomy. This target acquisition improvement may be due to the elevated foveation quality resulting in less inherent variation in the input to the OMS. A refined behavioral OMS model, with "fast" and "slow" motor neuron pathways and a more physiological plant, successfully predicted this improved visual behavior and again demonstrated its utility in guiding ocular motor research.

  2. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

    PubMed Central

    Chong, Jessica X.; Caputo, Viviana; Phelps, Ian G.; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C.; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T.; Ishak, Gisele E.; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J.; Ortiz-Gonzalez, Xilma R.; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-01-01

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126∗] and c.1363A>T [p.Lys455∗]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume. PMID:27040692

  3. Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma.

    PubMed

    Sarkar, M; Mulliken, J B; Kozakewich, H P; Robertson, R L; Burrows, P E

    1997-11-01

    Children with a large vascular tumor and associated Kasabach-Merritt coagulopathy respond inconsistently to therapy and have a high mortality rate. For this reason, we undertook a retrospective study of 21 such patients, and focused on clinical, radiographic, and histopathologic features. The male to female ratio was 1:1.6. Tumor was noted at birth in 50 percent of patients; the remainder appeared throughout infancy. The location was cervicofacial (n = 2), shoulder/upper limb (n = 4), trunk including retroperitoneum (n = 11), and lower limb (n = 4). These tumors grew rapidly to large size and were characterized by cutaneous purpura, edema, and an advancing ecchymotic margin. In contrast to common hemangioma, magnetic resonance imaging showed diffuse enhancement with ill-defined margins, cutaneous thickening, stranding of subcutaneous fat, hemosiderin deposits, and small feeding and draining vessels. All tumors were Kaposiform hemangioendothelioma (KHE); none were infantile hemangioma. Light microscopy showed irregular lobules or sheets of poorly formed, small vascular channels infiltrating and entrapping normal tissues. Characteristic features included spindle-shaped endothelial cells, diminished pericytes and mast cells, microthrombi, and hemosiderin deposits. Wide endothelial intercellular gaps and incomplete basement membranes were seen by electron microscopy. Dilated, hyperplastic, lymphaticoid channels were prominent in one tumor. KHE in 14 infants was treated with interferon alpha-2a: 6 had accelerated regression; 2 had stabilization of growth; and 6 evidenced no response. The mortality rate was 24 percent (5 of 21); this included three infants with retroperitoneal KHE. Kasabach-Merritt phenomenon does not occur with common hemangioma. Rather it is associated with the more aggressive KHE and rarely with other vascular neoplasms. Variable response to current pharmacologic therapy underscores our inadequate knowledge of the pathogenesis of thrombocytopenia in

  4. Molecular analysis and test of linkage between the FMR-I gene and infantile autism in multiplex families

    SciTech Connect

    Hallmayer, J.; Pintado, E.; Lotspeich, L.; Spiker, D.; Kraemer, H.C.; Lee Wong, D.; Lin, A.; Herbert, J.; Cavalli-Sforza, L.L.; Ciaranello, R.D.

    1994-11-01

    Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. 35 refs., 2 figs., 5 tabs.

  5. CAUSING AND CURING INFANTILE ESOTROPIA IN PRIMATES: THE ROLE OF DECORRELATED BINOCULAR INPUT (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS)

    PubMed Central

    Tychsen, Lawrence

    2007-01-01

    Purpose: Human infants at greatest risk for esotropia are those who suffer cerebral insults that could decorrelate signals from the 2 eyes during an early critical period of binocular, visuomotor development. The author reared normal infant monkeys, under conditions of binocular decorrelation, to determine if this alone was sufficient to cause esotropia and associated behavioral as well as neuroanatomic deficits. Methods: Binocular decorrelation was imposed using prism-goggles for durations of 3 to 24 weeks (in 6 experimental, 2 control monkeys). Behavioral recordings were obtained, followed by neuroanatomic analysis of ocular dominance columns and binocular, horizontal connections in the striate visual cortex (area V1). Results: Concomitant, constant esotropia developed in each monkey exposed to decorrelation for a duration of 12 to 24 weeks. The severity of ocular motor signs (esotropia-angle; dissociated vertical deviation; latent nystagmus; pursuit/optokinetic tracking asymmetry; fusional vergence deficits), and the loss of V1 binocular connections, increased as a function of decorrelation duration. Stereopsis was deficient and motion visual evoked potentials were asymmetric. Monkeys exposed to decorrelation for 3 weeks showed transient esotropia but regained normal visuomotor behaviors and binocular V1 connections. Conclusions: Binocular decorrelation is a sufficient cause of infantile esotropia when imposed during a critical period of visuomotor development. The systematic relationship between severity of visuomotor sign, and severity of V1 connectivity deficit, provides a neuroanatomic mechanism for several of these signs. Restoration of binocular fusion and V1 connections, after short durations of decorrelation, helps explain the benefits of early repair in human strabismus. PMID:18427630

  6. Early Surgical Management of Large Scalp Infantile Hemangioma Using the TopClosure® Tension-Relief System

    PubMed Central

    Zhu, Zhanyong; Yang, Xilin; Zhao, Yueqiang; Fan, Huajun; Yu, Mosheng; Topaz, Moris

    2015-01-01

    Abstract Infantile hemangiomas (IHs) are the most common benign vascular neoplasms of infancy and childhood. The majority do not need medical intervention. However, large ulcerated scalp IHs may lead to fatal bleeding as well as severe cosmetic disfigurement that indicate early surgical excision, inflicting substantial surgical risks, with short- and long-term morbidity. The TopClosure Tension-Relief System (TRS) is an innovative skin stretching and wound closure-secure system that facilitates primary closure of relatively large skin defects. This system has been shown as a substitute for skin grafts, flaps, or tissue expanders. We describe a case of a giant IH of the scalp usually requiring a complex surgical approach, which was immediately primarily closed applying the TRS. A 3-day-old female infant presented with a giant scalp hemangioma at birth that rapidly grew in the neonatal period with early signs of ulceration. The patient underwent surgical resection of the giant scalp hemangioma with immediate primary closure of the defect using the TRS. Surgical procedure and postoperative period were uneventful. Early surgical resections of IHs at infancy carry substantial surgical risks and morbidity. This is the first reported case of early resection of a scalp hemangioma in the neonatal period, with successful immediate primary closure by application of stress-relaxation technique through the TRS. The application of the TopClosure TRS in this age group has significant advantages. It reduces the complexity and length of surgery, reducing blood loss, eliminating donor site morbidity, improving wound aesthetics, and minimizing the need for future reconstructive procedures. PMID:26632734

  7. Early Surgical Management of Large Scalp Infantile Hemangioma Using the TopClosure® Tension-Relief System.

    PubMed

    Zhu, Zhanyong; Yang, Xilin; Zhao, Yueqiang; Fan, Huajun; Yu, Mosheng; Topaz, Moris

    2015-11-01

    Infantile hemangiomas (IHs) are the most common benign vascular neoplasms of infancy and childhood. The majority do not need medical intervention. However, large ulcerated scalp IHs may lead to fatal bleeding as well as severe cosmetic disfigurement that indicate early surgical excision, inflicting substantial surgical risks, with short- and long-term morbidity.The TopClosure Tension-Relief System (TRS) is an innovative skin stretching and wound closure-secure system that facilitates primary closure of relatively large skin defects. This system has been shown as a substitute for skin grafts, flaps, or tissue expanders.We describe a case of a giant IH of the scalp usually requiring a complex surgical approach, which was immediately primarily closed applying the TRS.A 3-day-old female infant presented with a giant scalp hemangioma at birth that rapidly grew in the neonatal period with early signs of ulceration. The patient underwent surgical resection of the giant scalp hemangioma with immediate primary closure of the defect using the TRS. Surgical procedure and postoperative period were uneventful.Early surgical resections of IHs at infancy carry substantial surgical risks and morbidity. This is the first reported case of early resection of a scalp hemangioma in the neonatal period, with successful immediate primary closure by application of stress-relaxation technique through the TRS. The application of the TopClosure TRS in this age group has significant advantages. It reduces the complexity and length of surgery, reducing blood loss, eliminating donor site morbidity, improving wound aesthetics, and minimizing the need for future reconstructive procedures.

  8. Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.

    PubMed

    Park, Mi-Hyun; Woo, Hae-Mi; Hong, Young Bin; Park, Ji Hoon; Yoon, Bo Ram; Park, Jin-Mo; Yoo, Jeong Hyun; Koo, Heasoo; Chae, Jong-Hee; Chung, Ki Wha; Choi, Byung-Ok; Koo, Soo Kyung

    2014-08-01

    Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated recessive mutations in a Korean family with two individuals affected by IOSCA. Causative mutations were investigated using whole exome sequencing. Electrophysiological analyses and muscle and nerve biopsies were performed, along with magnetic resonance imaging (MRI) of the brain and lower extremities. Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA. Skeletal muscle showed mitochondrial DNA (mtDNA) deletions. Both patients showed a period of normal development until 12-15 months, followed by ataxia, athetosis, hearing loss, and intellectual disability. Electrophysiological findings indicated motor and sensory polyneuropathies. Muscle biopsy revealed variations in the size and shape of myofibers with scattered, small, and angulated degenerating myofibers containing abnormal mitochondria; these observations are consistent with myopathy and may be the result of mtDNA deletions. Sural nerve biopsy revealed an axonal neuropathy. High-signal-intensity lesions in the middle cerebellar peduncles were correlated with clinical severity, and MRI of the lower legs was compatible with the hypothesis of length-dependent axonal degeneration. We identified novel compound heterozygous mutations of the C10orf2 gene as the cause of IOSCA with sensorimotor polyneuropathy and myopathy. Signs of motor neuropathy and myopathy were discovered for the first time in IOSCA patients with C10orf2 mutations. These results suggest that the clinical spectrum of IOSCA caused by C10orf2 mutations may be more variable than previously reported.

  9. A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus

    PubMed Central

    Watkins, Rachel J.; Patil, Rajashree; Goult, Benjamin T.; Thomas, Mervyn G.; Gottlob, Irene; Shackleton, Sue

    2013-01-01

    Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in the FRMD7 gene that encodes a FERM domain protein. FRMD7 is expressed in the brain and knock-down studies suggest it plays a role in neurite extension through modulation of the actin cytoskeleton, yet little is known about its precise molecular function and the effects of IIN mutations. Here, we studied four IIN-associated missense mutants and found them to have diverse effects on FRMD7 expression and cytoplasmic localization. The C271Y mutant accumulates in the nucleus, possibly due to disruption of a nuclear export sequence located downstream of the FERM-adjacent domain. While overexpression of wild-type FRMD7 promotes neurite outgrowth, mutants reduce this effect to differing degrees and the nuclear localizing C271Y mutant acts in a dominant-negative manner to inhibit neurite formation. To gain insight into FRMD7 molecular function, we used an IP-MS approach and identified the multi-domain plasma membrane scaffolding protein, CASK, as a FRMD7 interactor. Importantly, CASK promotes FRMD7 co-localization at the plasma membrane, where it enhances CASK-induced neurite length, whereas IIN-associated FRMD7 mutations impair all of these features. Mutations in CASK cause X-linked mental retardation. Patients with C-terminal CASK mutations also present with nystagmus and, strikingly, we show that these mutations specifically disrupt interaction with FRMD7. Together, our data strongly support a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus. PMID:23406872

  10. A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

    PubMed

    Watkins, Rachel J; Patil, Rajashree; Goult, Benjamin T; Thomas, Mervyn G; Gottlob, Irene; Shackleton, Sue

    2013-05-15

    Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in the FRMD7 gene that encodes a FERM domain protein. FRMD7 is expressed in the brain and knock-down studies suggest it plays a role in neurite extension through modulation of the actin cytoskeleton, yet little is known about its precise molecular function and the effects of IIN mutations. Here, we studied four IIN-associated missense mutants and found them to have diverse effects on FRMD7 expression and cytoplasmic localization. The C271Y mutant accumulates in the nucleus, possibly due to disruption of a nuclear export sequence located downstream of the FERM-adjacent domain. While overexpression of wild-type FRMD7 promotes neurite outgrowth, mutants reduce this effect to differing degrees and the nuclear localizing C271Y mutant acts in a dominant-negative manner to inhibit neurite formation. To gain insight into FRMD7 molecular function, we used an IP-MS approach and identified the multi-domain plasma membrane scaffolding protein, CASK, as a FRMD7 interactor. Importantly, CASK promotes FRMD7 co-localization at the plasma membrane, where it enhances CASK-induced neurite length, whereas IIN-associated FRMD7 mutations impair all of these features. Mutations in CASK cause X-linked mental retardation. Patients with C-terminal CASK mutations also present with nystagmus and, strikingly, we show that these mutations specifically disrupt interaction with FRMD7. Together, our data strongly support a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus.

  11. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.

    PubMed

    Wilmshurst, Jo M; Gaillard, William D; Vinayan, Kollencheri Puthenveettil; Tsuchida, Tammy N; Plouin, Perrine; Van Bogaert, Patrick; Carrizosa, Jaime; Elia, Maurizio; Craiu, Dana; Jovic, Nebojsa J; Nordli, Doug; Hirtz, Deborah; Wong, Virginia; Glauser, Tracy; Mizrahi, Eli M; Cross, J Helen

    2015-08-01

    Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video-EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile-onset epileptic encephalopathies, should be available

  12. Basil O'Connor, the National Foundation for Infantile Paralysis and the Reorganization of Polio Research in the United States, 1935-41.

    PubMed

    Wilson, Daniel J

    2015-07-01

    The costs associated with polio research in the late 1920s were high, while sources for research funding remained scarce. This began to change in the early 1930s with the creation of three private philanthropies that would form the basis of a system to fund polio research adequately: the International Committee for the Study of Infantile Paralysis (1928), The President's Birthday Ball Commission (1934), and the National Foundation for Infantile Paralysis (1938). This article explores how these three organizations shaped the process for directing funds to polio research. Beginning with the International Committee, all three philanthropies used medical advisory committees as vehicles for the review of proposals for research. The National Foundation adopted many of the policies and procedures of the earlier organizations, drawing on the experiences, misfortunes, and successes of its predecessors. The National Foundation also relied on some of the same personnel, although the microbiologist and writer Paul de Kruif, who was an influential figure in the early years, was gradually pushed out. This essay explores the establishment of the medical advisory committees of the National Foundation and reveals how by 1941 under leadership of Basil O'Connor and Dr. Thomas Rivers they developed a systematic and readily legitimated process for directing funding. By 1941, the NFIP had in place the fund-raising capacity to underwrite the scientific research that would ultimately produce two successful polio vaccines in the next twenty years.

  13. Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years

    PubMed Central

    Aymore, Ierecê Lins; Amoedo, Armando Rocha; Hemais, Paulo Miguel

    2016-01-01

    Purpose. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. Methods. Roentgenograms were made to evaluate a neonatal patient presenting multiple soft-tissue swellings. The initial radiographs insinuated that the disease had been present for some time in utero. Bone puncture biopsy of the tibia for histopathological observation and diagnosis conclusions was performed. Results. The disease was demonstrated radiographically by massive cortical diaphyseal thickening and also extensive periosteal new bone formation surrounding several bones. Results in blood count were as follows: discrete anemia, moderate leukocytosis, and elevated sedimentation rate. Histological pattern of tissue removed from tibia showed lamellar cortical bones and hyperplasia. Biopsy studies disclosed no evidence of neoplasia as well as of bacterial infection. Comments. Clinical manifestations in a neonatal patient displaying infantile cortical hyperostosis have gradually decreased. Radiograph findings have demonstrated complete recovery of bones manifested by the disease. The pathologic findings are in accordance with previous microscopic examination summarized by the literature. Total patient cure, without sequels, could be demonstrated. PMID:28050300

  14. Remembering the Chaos - But Life Went on and the Wound Healed. A Four Year Follow Up with Parents having had a Baby with Infantile Colic

    PubMed Central

    Landgren, Kajsa; Lundqvist, Anita; Hallström, Inger

    2012-01-01

    Objective: To elucidate parent´s experience of having had a baby with colic four years previously and of how the colic and care influenced the family in a long-term perspective. Methodology and Participants: A qualitative inductive follow-up study with 13 individual and one focus group interview including four parents. Altogether ten mothers and seven fathers representing 12 families, who had been interviewed when they were in the midst of the colicky period four years ago, were in the present study interviewed between December 2010 and May 2011. Parents’ narratives were analysed using content analysis. Results: Parent´s memories of the exhausting colic period were vivid, but when the colic had healed the family relationships also healed. Although it had taken longer time for some parents to attach to their child they now experienced a close relationship with their four year old child and felt confident in their role as parent. The colic scream was still unbearable and evoked negative feelings in the parents. Parents had decreased confidence in Child Health services and made suggestions for improvements in the health care approach. Most of all they wished for an effective treatment of infantile colic. Conclusion: The family relationships were healed and the colic left only few residual symptoms but parents still had decreased confidence in the Child Health Center. Consequently, there is a need to raise awareness to parents’ situation when having a child with infantile colic. PMID:22655001

  15. Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome.

    PubMed

    Hamajima, Takashi; Maruwaka, Kaori; Homma, Keiko; Matsuo, Kumihiro; Fujieda, Kenji; Hasegawa, Tomonobu

    2010-01-01

    We report herein the case of a 1-year-old boy with McCune-Albright syndrome (MAS) who presented with infantile-onset Cushing' s syndrome caused by ACTH independent macronodular adrenal hyperplasia (AIMAH). Abdominal CT, MRI, and adrenal scintigraphy with (131)I-adosterol identified bilateral adrenal involvement with the left adrenal gland being larger and functionally more active. Unilateral adrenalectomy of the left gland was performed and ameliorated many clinical symptoms, such as Cushingoid appearance and height restriction, and it also normalized many endocrinological data, such as diurnal rhythms of ACTH and cortisol, ACTH and cortisol responses to CRH, and urinary 24 hr free cortisol. Glucocorticoid was replaced for the first 1 year and 6 months after the operation. One adrenal crisis episode occurred at 3 weeks after the operation, but none have occurred since. These results suggest that unilateral adrenalectomy of the larger gland can be an alternative therapy for infantile onset Cushing' s syndrome caused by AIMAH with MAS, when asymmetric involvement is evident and the smaller gland is not markedly enlarged.

  16. Infantile Anorexia and Co-parenting: A Pilot Study on Mother–Father–Child Triadic Interactions during Feeding and Play

    PubMed Central

    Lucarelli, Loredana; Ammaniti, Massimo; Porreca, Alessio; Simonelli, Alessandra

    2017-01-01

    Infantile Anorexia (IA), defined by the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood Revised (DC: 0-3R, Zero To Three, 2005), occurs when the child (a) refuses to eat adequate amounts of food for at least 1 month, and shows growth deficiency, (b) does not communicate hunger and lacks interest in food, and (c) the child’s food refusal does not follow a traumatic event and is not due to an underlying medical illness. IA usually emerges during the transition to self-feeding, when the child issues of autonomy are played out daily in the feeding situation. Studies evidence that the feeding interactions between children with IA and their mothers are characterized by low reciprocity, greater interactional conflict and negative affects (Chatoor et al., 2000; Ammaniti et al., 2010, 2012). Moreover, these studies pointed out that maternal depression and eating disorders are frequently associated with IA (Cooper et al., 2004; Ammaniti et al., 2010; Lucarelli et al., 2013). To date, research has focused almost exclusively on the mother–child dyad, while fathers’ involvement, co-parental and family interactions are poorly studied. The current study is a pilot research that investigated mother–father–child triadic interactions, during feeding and play, in families with children diagnosed with IA, in comparison to families with normally developing children. Until now, at the study participated N = 10 families (five with a child with IA diagnosis and five with lack of child’s IA diagnosis, matched for child’s age and gender). The parents–child triadic interactions were assessed in feeding and play contexts using the Lausanne Trilogue Play (Fivaz-Depeursinge and Corboz-Warnery, 1999), adapted to observe father-mother-infant primary triangle in the feeding context, compared to the play context (Lucarelli et al., 2012). Families of the IA-group showed difficulties in expressing and sharing pleasure and positive

  17. HLA and response to booster hepatitis B vaccination in anti-HBs-seronegative adolescents who had received primary infantile vaccination.

    PubMed

    Lin, Hans Hsienhong; Liao, Huei-Wen Chang; Lin, Sheng-Kai; Wang, Li-Yu

    2008-06-25

    To explore contemporarily genetic and non-genetic determinants of long-term immunological memory to hepatitis B (HB) vaccination, we conducted a case-control study nested in an adolescent cohort of booster recipients who had received primary infantile HB vaccination but with residual anti-HBs titers <10 mIU/mL at 15-18 years of age. High-resolution phenotypes of human leukocyte antigen (HLA)-A, -B, and -DRB1 loci were determined by sequence-specific oligonucleotide probe hybridization. After controlling for pre-booster anti-HBs levels, the absences of HLA-A*02 and -DRB1*08, simply expressed as A*02(-) and -DRB1*08(-), and the presence of B*15 were significantly associated with elevated risks of non-response (post-booster anti-HBs titers<10 mIU/mL) to booster vaccination. The adjusted odds ratios (ORs) were 3.85 (CI, 1.82-8.33), 4.55 (CI, 1.23-16.67), 3.59 (CI, 1.40-9.17), respectively. There was multiplicative synergism between A*02 and B*15 on the risk of non-response to booster vaccination. The multivariate-adjusted ORs for A*02(-)/B*15, A*02(-)/B*15(-), A*02/B*15, and A*02/B*15(-) haplotypes were 20.39 (p=0.0003), 3.29 (p=0.007), 1.32 (p>0.05), and 1.0, respectively. Recent cigarette smoking and/or betel-quid chewing was associated with a 12-fold risk of non-response to booster vaccination. Further comparisons between responders and adolescents who had undetectable post-booster anti-HBs titers (<0.1 mIU/mL) demonstrated similar results. Our results indicated that response to booster HB vaccination as well as long-term immunological responses to HB vaccination are closely related with host genetic factors, and probably modified by recent substance use.

  18. Effect of topical propranolol gel on plasma renin, angiotensin II and vascular endothelial growth factor in superficial infantile hemangiomas.

    PubMed

    Tang, Yu-juan; Zhang, Zai-zhong; Chen, Shao-quan; Chen, Shu-ming; Li, Cheng-jin; Chen, Jian-wei; Yuan, Bo; Xia, Yin; Wang, Lie

    2015-10-01

    The effect of topical propranolol gel on the levels of plasma renin, angiotensin II (ATII) and vascular endothelial growth factor (VEGF) in superficial infantile hemangiomas (IHs) was investigated. Thirty-three consecutive children with superficial IHs were observed pre-treatment, 1 and 3 months after application of topical propranolol gel for the levels of plasma renin, ATII and VEGF in Department of General Surgery of Dongfang Hospital from February 2013 to February 2014. The plasma results of IHs were compared with those of 30 healthy infants of the same age from out-patient department. The clinical efficiency of topical propranolol gel at 1st, and 3rd month after application was 45%, and 82% respectively. The levels of plasma renin, ATII and VEGF in patients pre-treatment were higher than those in healthy infants (565.86 ± 49.66 vs. 18.19 ± 3.56, 3.20 ± 0.39 vs 0.30 ± 0.03, and 362.16 ± 27.29 vs. 85.63 ± 8.14, P < 0.05). The concentrations of VEGF and renin at 1st and 3rd month after treatment were decreased obviously as compared with those pre-treatment (271.51 ± 18.59 vs. 362.16 ± 27.29, and 405.18 ± 42.52 vs. 565.86 ± 49.66 P < 0.05; 240.80 ± 19.89 vs. 362.16 ± 27.29, and 325.90 ± 35.78 vs. 565.86 ± 49.66, P < 0.05, respectively), but the levels of plasma ATII declined slightly (2.96 ± 0.37 vs. 3.20 ± 0.39, and 2.47 ± 0.27 vs. 3.20 ± 0.39, P > 0.05). It was indicated that the increased renin, ATII and VEGF might play a role in the onset or development of IHs. Propranolol gel may suppress the proliferation of IHs by reducing VEGF.

  19. Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.

    PubMed

    Santiago, Teresa; Clay, Michael R; Allen, Sariah J; Orr, Brent A

    2017-03-03

    Primitive myxoid mesenchymal tumor of infancy is a rare sarcoma that preferentially affects infants. It can be locally aggressive and rarely metastasizes, but the long-term outcome of children with this tumor is mostly unknown. Histologically, it is characterized by primitive cells with abundant myxoid stroma. Internal tandem duplication of B-cell CLL/lymphoma 6 (BCL6)-interacting co-repressor (BCOR) exon 15 has recently been described in clear cell sarcoma of kidney, central nervous system high-grade neuroepithelial tumor with BCOR alteration, and primitive myxoid mesenchymal tumor of infancy. Herein, we report five cases of primitive myxoid mesenchymal tumor of infancy: three girls and two boys with mean age of 6.5 months. The tumors were located in the paraspinal region (n=3), back (n=1), or foot (n=1) and ranged in size from 2.5 to 10.2 cm. BCOR internal tandem duplication was confirmed by PCR and sequencing in all five cases. The minimally duplicated region consisted of nine residues, which is shorter than was previously reported in other BCOR-associated tumors. To assess the clinical value and specificity of the BCOR internal tandem duplication, a group of 11 ETV6-rearranged congenital infantile fibrosarcomas were evaluated and no BCOR internal tandem duplication was identified in any case. Though not detected in congenital infantile fibrosarcomas, BCOR and BCL6 immunoreactivity was present in >90% of the nuclei of tumor cells in each of the five primitive myxoid mesenchymal tumor of infancy. The presence of BCOR internal tandem duplication in all five primitive myxoid mesenchymal tumors of infancy provides evidence that it is a recurrent somatic abnormality and substantiates the concept that this tumor is a unique sarcoma of infancy. Our findings indicate that identification of BCOR internal tandem duplication and/or nuclear immunoreactivity for BCOR or BCL6 can aid in the diagnosis of primitive myxoid mesenchymal tumor of infancy and help to differentiate

  20. Extensión del Formalismo de Orbitales de Defecto Cuántico al tratamiento del efecto Stark (SQDO).

    NASA Astrophysics Data System (ADS)

    Menéndez, J. M.; Martín, I.; Velasco, A. M.

    El estudio experimental de las interacciones de átomos Rydberg altamente excitados con campos eléctricos ha experimentado un creciente interés durante las dos últimas décadas debido, en gran medida, al desarrollo de nuevas técnicas para crear y estudiar átomos Rydberg en el laboratorio. Acompañando a estas nuevas técnicas experimentales, es necesario el desarrollo de modelos teóricos que nos permitan contrastar sus medidas y conocer mejor los fundamentos de los mismos. Desde el punto de vista teórico el conocimiento del desdoblamiento de los niveles energéticos de un átomo en función de la magnitud del campo eléctrico aplicado (lo que se conoce como mapa Stark) es el mejor punto de partida para la descripción del sistema y un prerrequisito fundamental para el cálculo de distintas propiedades atómicas en presencia del campo eléctrico tales como intensidades de transición, umbrales de ionización de campo eléctrico, tiempos de vida, posición y anchura de cruces evitados, etc. En este trabajo presentamos la adaptación del método de orbitales de defecto cuántico [1,2,3] al tratamiento del efecto Stark (SQDO) [4] y su aplicación al cálculo de los desdoblamientos energéticos y fuerzas de oscilador de estados Rydberg en los átomos de Li, Na y K. El propósito de este estudio es, por un lado, desarrollar métodos fiables para la determinación de propiedades atómicas en presencia de campos eléctricos y, por otro, mostrar la fiabilidad de las funciones de onda QDO en la descripción del efecto Stark en sistemas atómicos.

  1. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis

    SciTech Connect

    Hellsten, E.; Vesa, J.; Peltonen, L.; Jaervela, I. ); Speer, M.C.; Ott, J. New York State Psychiatric Institute, New York ); Maekelae, T.P.; Alitalo, K. )

    1993-06-01

    Infantile neuronal ceroid lipofuscinosis, INCL, CLN1, is an autosomally inherited progressive neuro-generative disorder. The disease results in the massive death of cortical neurons, suggesting an essential role for the CLN1 gene product in the normal neuronal maturation during the first years of life. Identification of new multiallelic markers has now made possible the construction of a refined genetic map encompassing the CLN1 locus at 1p32. Strong allelic association was detected with a new, highly polymorphic HY-TM1 marker. The authors incorporated this observed linkage disequilibrium into multipoint linkage analysis, which significantly increased the informativeness of the limited family material and facilitated refined assignment of the CLN1 locus. 23 refs., 2 figs., 4 tabs.

  2. PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

    PubMed

    Illingworth, M A; Meyer, E; Chong, W K; Manzur, A Y; Carr, L J; Younis, R; Hardy, C; McDonald, F; Childs, A M; Stewart, B; Warren, D; Kneen, R; King, M D; Hayflick, S J; Kurian, M A

    2014-06-01

    Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report highlights the diagnostic challenges associated with this atypical PLAN subtype. In this series, the neuroradiological relevance of classical PLAN features as well as apparent claval hypertrophy' is explored. Novel PLA2G6 mutations were identified in all patients. PLAN should be considered not only in patients presenting with a classic INAD phenotype but also in older patients presenting later in childhood with non-specific progressive neurological features including social communication difficulties, gait disturbance, dyspraxia, neuropsychiatric symptoms and extrapyramidal motor features.

  3. Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins)

    SciTech Connect

    Katsui, T.; Okuda, M.; Usuda, S.; Koizumi, T.

    1986-03-01

    The kinetics of 5-HT uptake by platelets was studied in cases of infantile autism and developmental language disorder (DLD) and normal subjects. Two patients of the autism group were twins, and the seven patients of the DLD group were members of four pairs of twins. The Vmax values (means +/- SD) for autism and DLD were 6.46 +/- .90 pmol 5-HT/10(7) cells/min and 4.85 +/- 1.50 pmol 5-HT/10(7) cells/min, respectively. These values were both significantly higher than that of 2.25 +/- .97 pmole 5-HT/10(7) cells/min for normal children. The Km values of the three groups were not significantly different. Data on the five pairs of twins examined suggested that the elevated Vmax of 5-HT uptake by platelets was determined genetically.

  4. [Changes in the excitability of the spinal motor neurons during sessions of functional biocontrol in patients with different forms of infantile cerebral palsy].

    PubMed

    Bogdanov, O V; Sheliakin, A M; Pinchuk, D Iu; Pisar'kova, E V

    1993-01-01

    Excitability changes at the segmentary level of the spine were examined during functional bioregulation sessions administered to patients with various forms of infantile cerebral paralysis (spastic diplegia, spastic hemiparesis) by recording N- and M-responses of musculus soleus and musculus gastrocnemius medial head. Neurophysiologic disorders were revealed at the spinal level depending on the disease form. The authors suppose that presynaptic inhibition is to a greater measure impaired in spastic hemiparesis, whereas spastic diplegia is associated with more extensive involvement even of spinal inhibitory mechanisms proper. Sessions of functional bioregulation resulted in clinical improvement and in development of a trend to normalization of spinal reflectory excitability. Such changes were recorded in musculus soleus of children with spastic diplegia and in gastrocnemius muscle median head of those with spastic hemiparesis. Possible effects of directed afferent currents on structure and function of supraspinal systems regulating spinal mechanisms activity are discussed.

  5. Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

    PubMed Central

    Chung, E; Coffey, R; Parker, K; Tam, P; Pembrey, M E; Gardiner, R M

    1993-01-01

    A genetic component in the aetiology of infantile pyloric stenosis (PS) is well established. Segregation analysis is compatible with a multifactorial sex modified threshold model of inheritance but a major gene of low penetrance has not been excluded. PS has been reported to occur in 57% (four of seven) of cases with duplication of chromosome 9q11-q33. Twenty families with PS were studied using genetic markers at loci D9S55, D9S111, D9S15, D9S12, D9S56, D9S59, and ASS from this region of chromosome 9. Pairwise lod scores of -2 were obtained with all these markers at recombination fractions greater or equal to 0.04 under both autosomal dominant and autosomal recessive models of inheritance. This provides evidence against the existence of a major locus predisposing to PS within chromosome 9q11-q33. PMID:8320701

  6. [The influence of the LK-92 "Adeli" treatment loading suit on electro-neuro-myographic characteristics in patients with infantile cerebral paralysis].

    PubMed

    Semenova, K A; Antonova, L V

    1998-01-01

    Treatment-loading costume (LK-92 "Adely") was investigated in terms of its influence on functional state of neuromotor apparatus in 25 children with infantile cerebral paralysis in the form of spastic diplegia. Improvement of motor functions observed may be conditioned by a decrease of an amplitude of bioelectric activity in spastic muscles at physiologic rest and by an increase of an amplitude of agonists' biopotentials at arbitrary movements. Improvement of motor functions may be also caused by normalization of both the coefficients characterizing coordinated muscules' interactions and functional state of spinal motoneurons as well as of the mechanisms of their suprasegmental regulation. It is suggested that such effect may be, realized because of the afferentation normalization as well as by means of the influence of LK-92 "Adely" on both central and segmentary structures of motor analyzer including neuromediator systems.

  7. [Prevention rather than cure: the emergence and first stage of the Centros de Higiene Infantil in Mexico City, 1922-1932].

    PubMed

    Alanís, Mercedes

    2015-01-01

    This article deals with the main features of the emergence and first ten years of the Centros de Higiene Infantil, facilities run by the Departamento de Salubridad Pública from 1922 on in Mexico City with the goal of providing care for mothers from pregnancy onwards and children from birth to two years of age. It reviews the actions that gave rise to this project and how it became established. It analyzes the structure of these centers, the characteristics of the mothers and children seen there and the functions performed by doctors and nurses, stressing the notion of preventing childhood illnesses, and ends with a first assessment of the effects and limitations of these centers.

  8. [Prevention rather than cure: the emergence and first stage of the Centros de Higiene Infantil in Mexico City, 1922-1932.

    PubMed

    Alanís, Mercedes

    2015-01-16

    This article deals with the main features of the emergence and first ten years of the Centros de Higiene Infantil, facilities run by the Departamento de Salubridad Pública from 1922 on in Mexico City with the goal of providing care for mothers from pregnancy onwards and children from birth to two years of age. It reviews the actions that gave rise to this project and how it became established. It analyzes the structure of these centers, the characteristics of the mothers and children seen there and the functions performed by doctors and nurses, stressing the notion of preventing childhood illnesses, and ends with a first assessment of the effects and limitations of these centers.

  9. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.

    PubMed

    Komaru, Keiichi; Satou, Yasuhito; Al-Shawafi, Hiba A; Numa-Kinjoh, Natsuko; Sohda, Miwa; Oda, Kimimitsu

    2016-03-01

    Tissue-nonspecific alkaline phosphatase (TNSALP) is a membrane glycoprotein with a proposed role in bone mineralization. Indeed, mutations in TNSALP have been identified in patients with hypophosphatasia (HPP), a genetic disease characterized by hypomineralization of bone and teeth and a deficiency in serum ALP activity. TNSALP has five potential N-glycosylation sites at N140, N230, N271, N303 and N430 by standard nomenclature. A mutation at one of these sites, N430, was recently detected in a patient with infantile HPP. Using site-directed mutagenesis, we demonstrated that TNSALP has five N-glycans in transfected COS-1 cells and that individual single N-glycan deletion mutants of TNSALP retain the dimeric structure required for ALP activity, excluding the possibility that any single N-glycan plays a vital role in the structure and function of TNSALP. However, we found that TNSALP (N430Q) and TNSALP (N430E) mutants, but not a TNSALP (N430D) mutant, failed to form dimers. The TNSALP (N430S) mutant linked to infantile HPP was glycosylation-defective and unable to dimerise, similar to TNSALP (N430Q) and TNSALP (N430E) mutants; therefore, TNSALP (N430S) was established as a severe allele without strong ALP activity. By contrast to individual single N-glycan deletion mutants, TNSALP devoid of all five N-glycans was present to a much lesser extent than wild-type TNSALP in transfected cells, possibly reflecting its instability. A comprehensive analysis of a series of multiple N-glycan depletion mutants in TNSALP revealed that three N-glycans on N230, N271 and N303 were the minimal requirement for the structure and function of TNSALP and a prerequisite for its stable expression in a cell.

  10. A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

    PubMed

    Morgan, Neil V; Hartley, Jane L; Setchell, Kenneth D R; Simpson, Michael A; Brown, Rachel; Tee, Louise; Kirkham, Sian; Pasha, Shanaz; Trembath, Richard C; Maher, Eamonn R; Gissen, Paul; Kelly, Deirdre A

    2013-05-16

    Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the role of the others is not known. Here we report the findings of a clinical, biochemical and molecular study of a family with three patients affected with a severe infantile cholestatic disease. A novel homozygous frameshift germline mutation (c.587delG) in the AKR1D1 gene; which encodes the enzyme Δ 4-3-oxosteroid 5β-reductase that is required for synthesis of primary bile acids and is crucial for establishment of normal bile flow, was found in all 3 patients. Although the initial bile acid analysis was inconclusive, subsequent testing confirmed the diagnosis of a bile acid biogenesis disorder. An additional novel homozygous frameshift mutation (c.3391delC) was detected in SKIV2L in one of the patients. SKIV2L encodes a homologue of a yeast ski2 protein proposed to be involved in RNA processing and mutations in SKIV2L were recently described in patients with Tricohepatoenteric syndrome (THES). A combination of autozygosity mapping and whole-exome-sequencing allowed the identification of causal mutations in this family with a complex liver phenotype. Although the initial 2 affected cousins died in the first year of life, accurate diagnosis and management of the youngest patient led to successful treatment of the liver disease and disease-free survival.

  11. Imaging and serum biomarkers reflecting the functional efficacy of extended erythropoietin treatment in rats following infantile traumatic brain injury

    PubMed Central

    Robinson, Shenandoah; Winer, Jesse L.; Berkner, Justin; Chan, Lindsay A. S.; Denson, Jesse L.; Maxwell, Jessie R.; Yang, Yirong; Sillerud, Laurel O.; Tasker, Robert C.; Meehan, William P.; Mannix, Rebekah; Jantzie, Lauren L.

    2017-01-01

    OBJECTIVE Traumatic brain injury (TBI) is a leading cause of death and severe morbidity for otherwise healthy full-term infants around the world. Currently, the primary treatment for infant TBI is supportive, as no targeted therapies exist to actively promote recovery. The developing infant brain, in particular, has a unique response to injury and the potential for repair, both of which vary with maturation. Targeted interventions and objective measures of therapeutic efficacy are needed in this special population. The authors hypothesized that MRI and serum biomarkers can be used to quantify outcomes following infantile TBI in a preclinical rat model and that the potential efficacy of the neuro-reparative agent erythropoietin (EPO) in promoting recovery can be tested using these biomarkers as surrogates for functional outcomes. METHODS With institutional approval, a controlled cortical impact (CCI) was delivered to postnatal Day (P)12 rats of both sexes (76 rats). On postinjury Day (PID)1, the 49 CCI rats designated for chronic studies were randomized to EPO (3000 U/kg/dose, CCI-EPO, 24 rats) or vehicle (CCI-veh, 25 rats) administered intraperitoneally on PID1–4, 6, and 8. Acute injury (PID3) was evaluated with an immunoassay of injured cortex and serum, and chronic injury (PID13–28) was evaluated with digitized gait analyses, MRI, and serum immunoassay. The CCI-veh and CCI-EPO rats were compared with shams (49 rats) primarily using 2-way ANOVA with Bonferroni post hoc correction. RESULTS Following CCI, there was 4.8% mortality and 55% of injured rats exhibited convulsions. Of the injured rats designated for chronic analyses, 8.1% developed leptomeningeal cyst–like lesions verified with MRI and were excluded from further study. On PID3, Western blot showed that EPO receptor expression was increased in the injured cortex (p = 0.008). These Western blots also showed elevated ipsilateral cortex calpain degradation products for αII-spectrin (αII-SDPs; p < 0

  12. Imaging and serum biomarkers reflecting the functional efficacy of extended erythropoietin treatment in rats following infantile traumatic brain injury.

    PubMed

    Robinson, Shenandoah; Winer, Jesse L; Berkner, Justin; Chan, Lindsay A S; Denson, Jesse L; Maxwell, Jessie R; Yang, Yirong; Sillerud, Laurel O; Tasker, Robert C; Meehan, William P; Mannix, Rebekah; Jantzie, Lauren L

    2016-06-01

    OBJECTIVE Traumatic brain injury (TBI) is a leading cause of death and severe morbidity for otherwise healthy full-term infants around the world. Currently, the primary treatment for infant TBI is supportive, as no targeted therapies exist to actively promote recovery. The developing infant brain, in particular, has a unique response to injury and the potential for repair, both of which vary with maturation. Targeted interventions and objective measures of therapeutic efficacy are needed in this special population. The authors hypothesized that MRI and serum biomarkers can be used to quantify outcomes following infantile TBI in a preclinical rat model and that the potential efficacy of the neuro-reparative agent erythropoietin (EPO) in promoting recovery can be tested using these biomarkers as surrogates for functional outcomes. METHODS With institutional approval, a controlled cortical impact (CCI) was delivered to postnatal Day (P)12 rats of both sexes (76 rats). On postinjury Day (PID)1, the 49 CCI rats designated for chronic studies were randomized to EPO (3000 U/kg/dose, CCI-EPO, 24 rats) or vehicle (CCI-veh, 25 rats) administered intraperitoneally on PID1-4, 6, and 8. Acute injury (PID3) was evaluated with an immunoassay of injured cortex and serum, and chronic injury (PID13-28) was evaluated with digitized gait analyses, MRI, and serum immunoassay. The CCI-veh and CCI-EPO rats were compared with shams (49 rats) primarily using 2-way ANOVA with Bonferroni post hoc correction. RESULTS Following CCI, there was 4.8% mortality and 55% of injured rats exhibited convulsions. Of the injured rats designated for chronic analyses, 8.1% developed leptomeningeal cyst-like lesions verified with MRI and were excluded from further study. On PID3, Western blot showed that EPO receptor expression was increased in the injured cortex (p = 0.008). These Western blots also showed elevated ipsilateral cortex calpain degradation products for αII-spectrin (αII-SDPs; p < 0

  13. Poesias Infantiles (Children's Poems).

    ERIC Educational Resources Information Center

    Vargas, Herminio

    This collection of original poems and riddles in Spanish is intended for use in Spanish/English bilingual education in the primary grades, and can be used as a supplement to the Spanish Curricula Development Center core curriculum, Language Arts Strand, Grade One. The materials is intended to reinforce learning skills of decoding, comprehension…

  14. Infantile and juvenile lunatomalacia.

    PubMed

    Irisarri, C; Kalb, K; Ribak, S

    2010-09-01

    Lunatomalacia or avascular necrosis of the lunate in children is a rare disease not described by Kienböck. It is somewhat surprising that the term Kienböck's disease has been used to describe this disease of the lunate in children. We report our experience in 13 cases and review the literature. In children under 12, the prognosis is very good after immobilization alone. Persistent symptoms may indicate surgery, probably radial shortening, in some older teenagers although the outcome appears better than in adults. We suggest the term lunatomalacia to describe this disorder, in recognition of the term originally used by Kienböck.

  15. Propranolol (Infantile Hemangioma)

    MedlinePlus

    ... get emergency medical treatment: pale, blue or purple skin color sweating irritability decreased appetite low body temperature unusual sleepiness breathing stops for short periods of time seizures loss of consciousness If you experience a serious side effect, you or your doctor may send a report ...

  16. Infantile Refsum Disease

    MedlinePlus

    ... syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, ... syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, ...

  17. Participacion infantil (Child Participation).

    ERIC Educational Resources Information Center

    Moreno Garcia, Teresa, Ed.

    2000-01-01

    This Spanish- and Portuguese-language bulletin presents articles focusing on early childhood and elementary-age initiatives in which the children play a more active role than the usual model of teachers/adult project leaders taking the lead and the children following their directions. Each article covers a distinct project, thus examining the…

  18. Infantile Feeding Difficulties

    PubMed Central

    Raju, Venkedesh; Kandikattu, Bhavana S.; Mitchell, Craig S.

    2014-01-01

    Background. Gastric volvulus refers to a torsion of all or part of the stomach that may cause an obstruction of the foregut. The clinical symptoms of gastric volvulus range from asymptomatic to life-threatening and thus must be rapidly diagnosed. However, the presenting symptoms of gastric volvulus vary widely, which may cause diagnosis to be delayed or missed. Objective. Describe varying presentations of gastric volvulus (including a case report of a rare presentation), pathophysiology of the entity, and how to diagnose/treat the phenomenon. Design/Method. Article review and case presentation. Results. Our patient was taken to the operating room for a gastropexy and G-tube placement. During surgery, the stomach was redundant and large, but not currently torsed, consistent with intermittent organoaxial volvulus. There are several approaches to classifying gastric volvulus as well as different theories on how to treat the volvulus based on type and degree of rotation that this article aims to detail more thoroughly. Conclusion. There are a growing number of case reports describing gastric volvulus, which had historically been viewed as a rare finding. The presenting symptoms of gastric volvulus commonly mimic other, more benign newborn diagnoses, and thus can be difficult to diagnose. We present our patient as well as an article review of other cases to highlight the diverse presentations of gastric volvulus so this potentially devastating disease can be diagnosed quickly with prompt treatment initiation. PMID:27335912

  19. Nuevas estrategias de gestión, tratamiento y valorización de los efluentes organicos pecuarios: Experiencias en USDA. (Management strategies for organic livestock effluents,innovative treatment and valorization)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    En la actualidad el impacto potencial de los residuos ganaderos en el medio-ambiente representa uno de los desafíos más grandes de la agricultura. Las tecnologías de tratamiento pueden tener un importante papel en el manejo de los residuos ganaderos dando más flexibilidad en los programas de la apli...

  20. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism

    PubMed Central

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been

  1. [Frequency of allergy to cow's milk proteins and its association to other allergic diseases in patients of Hospital Infantil de Mexico Federico Gomez].

    PubMed

    Robles-Vargas, María Teresa; Sienra-Monge, Juan José; Del Río-Navarro, Blanca Estela; Reyes-López, Alfonso; Del Río-Chivardi, Jaime

    2014-01-01

    Antecedentes: la alergia a las proteínas de la leche de vaca es la alergia alimentaria más común entre los niños menores de dos años y se asocia con otras enfermedades atópicas. Objetivo: evaluar la frecuencia de alergia a las proteínas de la leche de vaca en pacientes sensibilizados a las mismas, que acuden a la consulta de Inmunología y Alergia del Hospital Infantil de México Federico Gómez, así como su asociación con otras enfermedades atópicas. Material y método: estudio retrolectivo, analítico y descriptivo en el que se revisaron los expedientes clínicos de pacientes de 0 a 19 años de edad, atendidos en la consulta de Inmunología y Alergia del Hospital Infantil de México Federico Gómez, de enero de 2010 a enero de 2013, sensibilizados a las proteínas de leche de vaca por estudios in vitro o in vivo, mediada o no mediada por IgE, para determinar su asociación con otras enfermedades atópicas durante el curso de su evolución clínica. Resultados: se incluyeron 252 pacientes con síntomas sugerentes de alergia a las proteínas de la leche de vaca, de los que sólo en 15.1% se diagnosticó por reto oral. Con respecto a los síntomas respiratorios, alrededor de 66% de los pacientes manifestó rinorrea, obstrucción y prurito nasales. En cuanto a los síntomas gastrointestinales, cerca de 30% tuvo diarrea y dolor y distensión abdominales, lo que fue estadísticamente significativo. El síntoma dermatológico más frecuente y estadísticamente significativo fue la xerosis. Las enfermedades atópicas asociadas con más frecuencia fueron: alergia alimentaria (76.3%), rinitis alérgica (65.8%), asma (47.4%) y dermatitis atópica (23%). Conclusiones: la alergia a las proteínas de la leche de vaca puede asociarse con otras enfermedades atópicas, como alergia a otros alimentos, rinitis alérgica, asma y dermatitis atópica.

  2. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism.

    PubMed

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been

  3. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

    PubMed Central

    Gensure, Robert C.; Mäkitie, Outi; Barclay, Catherine; Chan, Catherine; DePalma, Steven R.; Bastepe, Murat; Abuzahra, Hilal; Couper, Richard; Mundlos, Stefan; Sillence, David; Ala Kokko, Leena; Seidman, Jonathan G.; Cole, William G.; Jüppner, Harald

    2005-01-01

    Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. A genome-wide screen for genetic linkage in a large family with an autosomal dominant form of Caffey disease (ADC) revealed a locus on chromosome 17q21 (LOD score, 6.78). Affected individuals and obligate carriers were heterozygous for a missense mutation (3040C↠T) in exon 41 of the gene encoding the α1(I) chain of type I collagen (COL1A1), altering residue 836 (R836C) in the triple-helical domain of this chain. The same mutation was identified in affected members of 2 unrelated, smaller families with ADC, but not in 2 prenatal cases and not in more than 300 chromosomes from healthy individuals. Fibroblast cultures from an affected individual produced abnormal disulfide-bonded dimeric α1(I) chains. Dermal collagen fibrils of the same individual were larger, more variable in shape and size, and less densely packed than those in control samples. Individuals bearing the mutation, whether they had experienced an episode of cortical hyperostosis or not, had joint hyperlaxity, hyperextensible skin, and inguinal hernias resembling symptoms of a mild form of Ehlers-Danlos syndrome type III. These findings extend the spectrum of COL1A1-related diseases to include a hyperostotic disorder. PMID:15864348

  4. A well-known lesion in an unusual location: infantile myofibroma of the eyelid: a case report and review of literature.

    PubMed

    Asadi Amoli, Fahimeh; Sina, Amir Hossein; Kasai, Aboulfazl; Ayan, Zahra

    2010-01-01

    Myofibroma is a neoplasia of myofibroblasts that can be solitary or multiple and it is found most commonly in the head & neck region including scalp, forehead, parotid region and oral cavity. In the eyelid it is rarely reported. It has a benign course in the solitary form and fatal in its multiple form. A 4 month male infant referred to Farabi hospital -the referral center for eye diseases- with a 2 month history of a mass in his eyelid with gradual enlargement with no other complaints. The only abnormal physical finding was a 2.5 cm mass in the eyelid. This mass was excised and sent to the hospital pathology laboratory. When confronting a spindle cell lesion with a nodular or multinodular growth pattern which appears biphasic due to alteration of light and dark staining areas, the surgical pathologist should think to the possibility of myofibroma. Its pattern of growth and architecture rules out the other differential diagnoses like nodular fasciitis, fibrous histiocytoma, infantile fibromatosis, and peripheral primitive neuroectodermal tumor, mesenchymal chondrosarcoma, malignant hemangiopericytoma, juvenile fibrosarcoma and poorly differentiated synovial sarcoma. In difficult cases immunohistochemical staining is helpful that is Vimentin & Actin positivity & Desmin, CK, EMA & S100 negativity.

  5. Severity of infantile nystagmus syndrome-like ocular motor phenotype is linked to the extent of the underlying optic nerve projection defect in zebrafish belladonna mutant.

    PubMed

    Huber-Reggi, Sabina P; Chen, Chien-Cheng; Grimm, Lea; Straumann, Dominik; Neuhauss, Stephan C F; Huang, Melody Ying-Yu

    2012-12-12

    Infantile nystagmus syndrome (INS), formerly known as congenital nystagmus, is an ocular motor disorder in humans characterized by spontaneous eye oscillations (SOs) and, in several cases, reversed optokinetic response (OKR). Its etiology and pathomechanism is largely unknown, but misrouting of the optic nerve has been observed in some patients. Likewise, optic nerve misrouting, a reversed OKR and SOs with INS-like waveforms are observed in zebrafish belladonna (bel) mutants. We aimed to investigate whether and how misrouting of the optic nerve correlates with the ocular motor behaviors in bel larvae. OKR and SOs were quantified and subsequently the optic nerve fibers were stained with fluorescent lipophilic dyes. Eye velocity during OKR was reduced in larvae with few misprojecting optic nerve fibers and reversed in larvae with a substantial fraction of misprojecting fibers. All larvae with reversed OKR also displayed SOs. A stronger reversed OKR correlated with more frequent SOs. Since we did not find a correlation between additional retinal defects and ocular motor behavior, we suggest that axon misrouting is in fact origin of INS in the zebrafish animal model. Depending on the ratio between misprojecting ipsilateral and correctly projecting contralateral fibers, the negative feedback loop normally regulating OKR can turn into a positive loop, resulting in an increase in retinal slip. Our data not only give new insights into the etiology of INS but may also be of interest for studies on how the brain deals with and adapts to conflicting inputs.

  6. Infantile anorexia, co-excitation and co-mastery in the parent/baby cathexis: The contribution of Sigmund and Anna Freud.

    PubMed

    Cascales, Thomas

    2017-04-01

    Recent epidemiological studies show that 2% of babies in ordinary paediatric clinics suffer from infantile anorexia. In the first part of this paper we present a case study from our hospital clinical activity. Our framework combines clinical psychoanalytic sessions and perinatal videos. In the second part, we will focus on the concepts of instinct and excitation proposed by Sigmund Freud and the concept of mastery proposed by Anna Freud. In the third part, we will examine these concepts in the light of the case study. The fourth part is devoted to clinical recommendations from our hospital psychoanalytic practice. In conclusion, unlike other clinical settings, the psychoanalytic setting allows for the elaboration of the parental hatred included in the libidinal cathexis. Our psychoanalytic setting (sessions/videos) makes it possible to decontaminate parental intrapsychic elements overloaded with excitement, saturated with hate elements, and rendered sterile by the instinct for mastery. An initial part of the treatment process involves working through the intersubjective elements observed in the video.

  7. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

    PubMed

    Akman, Hasan O; Sampayo, James N; Ross, Fiona A; Scott, John W; Wilson, Gregory; Benson, Lee; Bruno, Claudio; Shanske, Sara; Hardie, D Grahame; Dimauro, Salvatore

    2007-10-01

    A 10-wk-old infant girl with severe hypertrophy of the septal and atrial walls by cardiac ultrasound, developed progressive ventricular wall thickening and died of aspiration pneumonia at 5 mo of age. Postmortem examination revealed ventricular hypertrophy and massive atrial wall thickening due to glycogen accumulation. A skeletal muscle biopsy showed increased free glycogen and decreased activity of phosphorylase b kinase (PHK). The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient. We found a novel (R384T) heterozygous mutation in PRKAG2, affecting an arginine residue in the N-terminal AMP-binding domain. Like R531Q, this mutation reduces the binding of AMP and ATP to the isolated nucleotide-binding domains, and prevents activation of the heterotrimer by metabolic stress in intact cells. The mutation was not found in DNA from the patient's father, the only available parent, and is likely to have arisen de novo. Our studies confirm that mutations in PRKAG2 can cause fatal infantile cardiomyopathy, often associated with apparent PHK deficiency.

  8. Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide.

    PubMed

    Corbacioglu, S; Hönig, M; Lahr, G; Stöhr, S; Berry, G; Friedrich, W; Schulz, A S

    2006-10-01

    Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder of osteoclast function, which can be reversed by hematopoietic stem cell transplantation (SCT). We observed a high incidence of hepatic veno-occlusive disease (VOD) in transplanted patients and explored the prevention of this complication by using defibrotide (DF) as a prophylaxis. Twenty children with MIOP were consecutively transplanted in our center between 1996 and 2005. Eleven of these patients were transplanted between 1996 and 2001 and experienced an overall incidence of VOD of 63.6% (7/11). VOD was severe in three patients and one patient succumbed to VOD-related multi-organ failure. Owing to this very high incidence of VOD, DF prophylaxis was initiated in nine patients consecutively transplanted between 2001 and 2005. In this group, only one patient (11.1%) was diagnosed with moderate VOD. We report here a very high risk in patients with MIOP to develop VOD after transplantation. Prophylactic DF was implemented in our current transplant protocol and reduced the VOD rate significantly in this high-risk population.

  9. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

    PubMed Central

    Katz, Martin L.; Tecedor, Luis; Chen, Yonghong; Williamson, Baye G.; Lysenko, Elena; Wininger, Fred A.; Young, Whitney M.; Johnson, Gayle C.; Whiting, Rebecca E. H.; Coates, Joan R.; Davidson, Beverly L.

    2016-01-01

    The most common form of the childhood neurodegenerative disease late infantile neuronal ceroid lipofuscinosis (also called Batten disease) is caused by deficiency of the soluble lysosomal enzyme tripeptidyl peptidase 1 (TPP1) resulting from mutations in the TPP1 gene. We tested whether TPP1 gene transfer to the ependyma, the epithelial lining of the brain ventricular system, in TPP1-deficient dogs would be therapeutically beneficial. A one-time administration of recombinant adeno-associated virus (rAAV) expressing canine TPP1 (rAAV.caTPP1) resulted in high expression of TPP1 predominantly in ependymal cells and secretion of the enzyme into the cerebrospinal fluid leading to clinical benefit. Diseased dogs treated with rAAV.caTPP1 showed delays in onset of clinical signs and disease progression, protection from cognitive decline, and extension of life span. By immunostaining and enzyme assay, recombinant protein was evident throughout the brain and spinal cord, with correction of the neuropathology characteristic of the disease. This study in a naturally occurring canine model of TPP1 deficiency highlights the utility of AAV transduction of ventricular lining cells to accomplish stable secretion of recombinant protein for broad distribution in the central nervous system and therapeutic benefit. PMID:26560358

  10. Serum levels of renin, angiotensin-converting enzyme and angiotensin II in patients treated by surgical excision, propranolol and captopril for problematic proliferating infantile haemangioma.

    PubMed

    Sulzberger, L; Baillie, R; Itinteang, T; de Jong, S; Marsh, R; Leadbitter, P; Tan, S T

    2016-03-01

    The role of the renin-angiotensin system (RAS) in the biology of infantile haemangioma (IH) and its accelerated involution induced by β-blockers was first proposed in 2010. This led to the first clinical trial in 2012 using low-dose captopril, an angiotensin-converting enzyme (ACE) inhibitor, demonstrating a similar response in these tumours. This study aimed to compare serial serum levels of the components of the RAS in patients before and after surgical excision, propranolol or captopril treatment for problematic proliferating IH. Patients with problematic proliferating IH underwent measurements of serum levels of plasma renin activity (PRA), ACE and angiotensin II (ATII) before, and 1-2 and 6 months following surgical excision, propranolol or captopril treatment. This study included 27 patients undergoing surgical excision (n = 8), propranolol (n = 11) and captopril (n = 8) treatment. Treatment with either surgical excision or propranolol resulted in significant decrease in the mean levels of PRA. Surgical excision or captopril treatment led to significant decline in the mean levels of ATII. All three treatment modalities had no significant effect on the mean levels of ACE. This study demonstrates the effect of surgical excision, propranolol and captopril treatment in lowering the levels of PRA and ATII, but not ACE, supporting a mechanistic role for the RAS in the biology of IH.

  11. Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

    PubMed

    Woody, April L; Hsieh, David T; McIver, Harkirtin K; Thomas, Linda P; Rohena, Luis

    2015-04-01

    Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes EIF2B1-5, which encode for the 5 subunits of the eukaryotic initiation factor 2B (eIF2B), a regulator of protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent progressive neurological and cognitive regression. There is a varied clinical spectrum of VWM, with earlier onset associated with more severe phenotypes. Brain magnetic resonance imaging is usually diagnostic with diffusely abnormal white matter, progressing over time to cystic degeneration. We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12. In addition, our case is unusual because of a severe epilepsy course, a novel clinical finding of hypopituitarism manifested by hypothyroidism and adrenal insufficiency, and a prolonged life span with current age of survival of 4 years and 11 months.

  12. Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency

    PubMed Central

    Bakhtiar, Shahrzad; Gámez-Díaz, Laura; Jarisch, Andrea; Soerensen, Jan; Grimbacher, Bodo; Belohradsky, Bernd; Keller, Klaus-Michael; Rietschel, Christoph; Klingebiel, Thomas; Koletzko, Sibylle; Albert, Michael H.; Bader, Peter

    2017-01-01

    Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primary immunodeficiency syndromes. Poor clinical outcome is associated with poor quality of life and high morbidity from the complications of prolonged immunosuppressive treatment and malabsorption. In 2012, mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) gene were identified as the cause of an autoimmunity and immunodeficiency syndrome. Since then, several LRBA-deficient patients have been reported with a broad spectrum of clinical manifestations without reliable predictive prognostic markers. Allogeneic hematopoietic stem cell transplantation (alloHSCT) has been performed in a few severely affected patients with complete or partial response. Herein, we present a detailed course of the disease and the transplantation procedure used in a LRBA-deficient patient suffering primarily from infantile IBD with immune enteropathy since the age of 6 weeks, and progressive autoimmunity with major complications following long-term immunosuppressive treatment. At 12 years of age, alloHSCT using bone marrow of a fully matched sibling donor—a healthy heterozygous LRBA mutant carrier—was performed after conditioning with a reduced-intensity regimen. During the 6-year follow-up, we observed a complete remission of enteropathy, autoimmunity, and skin vitiligo, with complete donor chimerism. The genetic diagnosis of LRBA deficiency was made post-alloHSCT by detection of two compound heterozygous mutations, using targeted sequencing of DNA samples extracted from peripheral blood before the transplantation. PMID:28197149

  13. [The role of therapeutic physical training and massage in the restoration of static and dynamic functions in the children presenting with the atonic-astatic form of infantile cerebral paralysis].

    PubMed

    Paramonova, D B; Mugerman, B I

    2012-01-01

    Fifteen patients out of 25 involved in this study were given eight 20-day courses of toning massage and a series of special physical exercises designed to strengthen the occlusor muscles of the hip, knee and ankle joints. A massage technique and special physical exercises have been developed that made it possible to significantly improve the static and dynamic functions in the children presenting with the atonic-astatic form of infantile cerebral paralysis. No appreciable changes in the locomotor function was documented in the control group consisting of 10 patients.

  14. PDGFR-β (+) perivascular cells from infantile hemangioma display the features of mesenchymal stem cells and show stronger adipogenic potential in vitro and in vivo.

    PubMed

    Yuan, Si-Ming; Guo, Yao; Zhou, Xiao-Jun; Shen, Wei-Min; Chen, Hai-Ni

    2014-01-01

    Infantile hemangioma, a common benign tumor of infancy, grows quickly in the first year of life, and then regresses slowly to fibrofatty tissue in childhood. The accumulation of fibrofatty tissue in hemangioma involution indicates adipogenesis during this period. Perivascular cells (PCs) from multiple organs display multi-lineage differentiation, including adipogenesis. So we supposed that PCs in hemangioma may contribute to the adipogenesis in the involution. In this study, PDGFR-β (+) PCs was isolated from hemangioma tissue (hemangioma-derived perivascular cells, Hem-PCs) by fluorescence-activated cell sorter. In vitro, Hem-PCs showed fibroblast-like morphology. Immunofluorescence staining and flow cytometry showed Hem-PCs expressed MSCs markers CD105, CD90, CD29 and vimentin, pericyte markers α-SMA and PDGFR-β, stem cell marker CD133, and the adipogenic transcription factor PPAR-γ, but not hematopoietic/endothelial markers CD45, CD34, CD31, and flt-1. In vitro inductions confirmed multi-lineage differentiation of Hem-PCs, especially strong adipogenic potential. Then a murine model was established to observe in vivo differentiation of Hem-PCs by subcutaneous injection of cells/Matrigel compound into nude mice. The results showed Hem-PCs differentiated into adipocytes in vivo. To the best of our knowledge, this is the first study reporting the isolation of multipotential PDGFR-β (+) PCs from hemangioma, and observing their adipogenic differentiation in vivo. PCs may be the cellular basis of adipogenesis in hemangioma involution, and may be the target cells of adipogenic induction to promote hemangioma involution.

  15. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

    PubMed

    Zeng, Binghui; Li, Ru; Hu, Yuelin; Hu, Bin; Zhao, Qiang; Liu, Huijiao; Yuan, Ping; Wang, Yiming

    2016-01-15

    Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a patient who was diagnosed with IMO at seven months of age. The patient presented with classical radiological features of IMO. She also exhibited erythropenia, thrombocytopenia, hepatosplenomegaly and neurodegeneration. The parents discontinued any medical treatment for the patient. Surprisingly, the patient's condition did not deteriorate when she was admitted a second time at the age of four years and nine months, despite not receiving any medical support during the untreated period. We sequenced the CLCN7 and TCIRG1 genes of the patient and her parents and identified a novel c.285+1G>A (IVS3+1G>A) mutation and the known c.896C>T (p.Ala299Val) mutation. The novel c.285+1G>A mutation occurred on the splice donor of the third intron of CLCN7. This mutation was predicted to interfere with normal splicing between exons 3 and 4, thereby truncating 711 amino acids from the C terminus and resulting in the loss of all of the functional domains of the encoded protein. The c.896C>T (p.Ala299Val) mutation was a previously known pathogenic mutation. We did not find any pathogenic mutations in the TCIRG1 gene. CLCN7-related osteopetrosis is known to have a high phenotype heterogeneity. Our study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene.

  16. The same unique mutation in the arylsulfatase A gene causes late infantile metachromatic leukodystrophy in the Navajo and Western Eskimo populations

    SciTech Connect

    Pastor-Soler, N.M.; Hu, D.; Schertz, E.

    1994-09-01

    Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by defective catabolism of sulfatide, an important sphingolipid in myelin. Late infantile (LI), juvenile and adult patients with MLD are found throughout the world. Mutational analysis of the ARSA gene in patients with MLD has resulted in the identification of about 30 mutations. Recently we identified a mutation in the ARSA gene that was present in all Navajo Indian patients tested with LIMLD. All of the patients were homozygous for the G to A change at position 1 of intron 4 which causes aberrant splicing and a low level of ARSA mRNA. This mutation had not been found in any non-Navajo population. However, recently we were sent samples from two Alaskan Eskimo siblings with LIMLD. Sequencing of amplified genomic DNA showed that the affected siblings were homozygous for the above mutation. A simple DNA-based test will permit accurate patient and carrier identification in both the Eskimo and Navajo populations. Many studies have focused on the migrations of the Amerindian, Athapaskan and Eskimo from eastern Asia to the new world and the intermingling of these peoples. While it is clear that Na-Dene speaking Navajo split from other Athapaskan tribes and migrated from western Canada and Alaska to the southwest area of the United States, a direct genetic connection between the Western Eskimo and the Navajo has not been made. The presence of the same unique mutation causing a fatal inherited disease in both populations may point to interaction between these peoples prior to the migration of the Navajos south about 1000 years ago.

  17. A Mouse Model Suggests Two Mechanisms for Thyroid Alterations in Infantile Cystinosis: Decreased Thyroglobulin Synthesis Due to Endoplasmic Reticulum Stress/Unfolded Protein Response and Impaired Lysosomal Processing

    PubMed Central

    Gaide Chevronnay, H. P.; Janssens, V.; Van Der Smissen, P.; Liao, X. H.; Abid, Y.; Nevo, N.; Antignac, C.; Refetoff, S.; Cherqui, S.; Pierreux, C. E.

    2015-01-01

    Thyroid hormones are released from thyroglobulin (Tg) in lysosomes, which are impaired in infantile/nephropathic cystinosis. Cystinosis is a lysosomal cystine storage disease due to defective cystine exporter, cystinosin. Cystinotic children develop subclinical and then overt hypothyroidism. Why hypothyroidism is the most frequent and earliest endocrine complication of cystinosis is unknown. We here defined early alterations in Ctns−/− mice thyroid and identified subcellular and molecular mechanisms. At 9 months, T4 and T3 plasma levels were normal and TSH was moderately increased (∼4-fold). By histology, hyperplasia and hypertrophy of most follicles preceded colloid exhaustion. Increased immunolabeling for thyrocyte proliferation and apoptotic shedding indicated accelerated cell turnover. Electron microscopy revealed endoplasmic reticulum (ER) dilation, apical lamellipodia indicating macropinocytic colloid uptake, and lysosomal cystine crystals. Tg accumulation in dilated ER contrasted with mRNA down-regulation. Increased expression of ER chaperones, glucose-regulated protein of 78 kDa and protein disulfide isomerase, associated with alternative X-box binding protein-1 splicing, revealed unfolded protein response (UPR) activation by ER stress. Decreased Tg mRNA and ER stress suggested reduced Tg synthesis. Coordinated increase of UPR markers, activating transcription factor-4 and C/EBP homologous protein, linked ER stress to apoptosis. Hormonogenic cathepsins were not altered, but lysosome-associated membrane protein-1 immunolabeling disclosed enlarged vesicles containing iodo-Tg and impaired lysosomal fusion. Isopycnic fractionation showed iodo-Tg accumulation in denser lysosomes, suggesting defective lysosomal processing and hormone release. In conclusion, Ctns−/− mice showed the following alterations: 1) compensated primary hypothyroidism and accelerated thyrocyte turnover; 2) impaired Tg production linked to ER stress/UPR response; and 3) altered

  18. Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

    PubMed Central

    Rather, Mohammad Iqbal; Bhat, Vishwanath; Gopinath, Sindhura; Bindu, Parayil Sankaran; Taly, Arun B.; Sinha, Sanjib; Nagappa, Madhu; Bharath, Rose Dawn; Mahadevan, Anita; Narayanappa, Gayathri; Chickabasaviah, Yasha T.; Kumar, Arun

    2016-01-01

    Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study was to perform genetic analysis of 22 Indian families with INAD, ANAD and DPC. DNA sequence analysis of the entire coding region of PLA2G6 identified 13 different mutations, including five novel ones (p.Leu224Pro, p.Asp283Asn, p.Arg329Cys, p.Leu491Phe, and p.Arg649His), in 12/22 (54.55%) families with INAD and ANAD. Interestingly, one patient with INAD was homozygous for two different mutations, p.Leu491Phe and p.Ala516Val, and thus harboured four mutant alleles. With these mutations, the total number of mutations in this gene reaches 129. The absence of mutations in 10/22 (45.45%) families suggests that the mutations could be in deep intronic or promoter regions of this gene or these families could have mutations in a yet to be identified gene. The present study increases the mutation landscape of PLA2G6. The present finding will be useful for genetic diagnosis, carrier detection and genetic counselling to families included in this study and other families with similar disease condition. PMID:27196560

  19. Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome.

    PubMed

    Hussain, Shaun A; Zhou, Raymond; Jacobson, Catherine; Weng, Julius; Cheng, Emily; Lay, Johnson; Hung, Phoebe; Lerner, Jason T; Sankar, Raman

    2015-06-01

    There is a great need for safe and effective therapies for treatment of infantile spasms (IS) and Lennox-Gastaut syndrome (LGS). Based on anecdotal reports and limited experience in an open-label trial, cannabidiol (CBD) has received tremendous attention as a potential treatment for pediatric epilepsy, especially Dravet syndrome. However, there is scant evidence of specific utility for treatment of IS and LGS. We sought to document the experiences of children with IS and/or LGS who have been treated with CBD-enriched cannabis preparations. We conducted a brief online survey of parents who administered CBD-enriched cannabis preparations for the treatment of their children's epilepsy. We specifically recruited parents of children with IS and LGS and focused on perceived efficacy, dosage, and tolerability. Survey respondents included 117 parents of children with epilepsy (including 53 with IS or LGS) who had administered CBD products to their children. Perceived efficacy and tolerability were similar across etiologic subgroups. Eighty-five percent of all parents reported a reduction in seizure frequency, and 14% reported complete seizure freedom. Epilepsy was characterized as highly refractory with median latency from epilepsy onset to CBD initiation of five years, during which the patient's seizures failed to improve after a median of eight antiseizure medication trials. The median duration and the median dosage of CBD exposure were 6.8 months and 4.3mg/kg/day, respectively. Reported side effects were far less common during CBD exposure, with the exception of increased appetite (30%). A high proportion of respondents reported improvement in sleep (53%), alertness (71%), and mood (63%) during CBD therapy. Although this study suggests a potential role for CBD in the treatment of refractory childhood epilepsy including IS and LGS, it does not represent compelling evidence of efficacy or safety. From a methodological standpoint, this study is extraordinarily vulnerable

  20. Downregulation of miR-382 by propranolol inhibits the progression of infantile hemangioma via the PTEN-mediated AKT/mTOR pathway.

    PubMed

    Li, Dongfan; Li, Peng; Guo, Zhengtuan; Wang, Huaijie; Pan, Weikang

    2017-03-01

    Approximately 10% of infantile hemangiomas (IHs) are the most common vascular tumors affecting children and are characterized by rapid growth, and can have destructive, disfiguring and even life-threatening consequences. Currently, propranolol is considered to be a safe and effective treatment option for problematic proliferating IHs. Recent studies have also revealed that microRNAs (miRNAs or miRs) play important roles in the regulation of angiogenesis. In this study, XPTS‑1 cells were used as a hemangioma-derived endothelial cell line constructed in our laboratory. Through a series of experiments, we discovered that miR‑382 is a novel miRNA associated with IHs, which was overexpressed in XPTS‑1 cells and was conversely downregulated by treatment with propranolol. In addition, we found that miR‑382 contributes to the progression of IHs. Our results revealed that propranolol inhibited XPTS‑1 cell migration and proliferation, and promoted apoptosis, and these effects were reversed by the restoration of miR‑382 expression by transfection of the cells with an miR‑382 overexpression vector. Further experiments revealed that the above-mentioned effects were associated with the phosphatase and tensin homolog (PTEN)-mediated AKT/mammalian target of rapamycin (mTOR) signaling pathway. The expression of PTEN was upregulated, while that of p-AKT, p-mTOR and p-p70S6K was downregulated by propranolol; these effects were partly reversed by the overexpression of miR‑382. On the whole, our study identified that the downregulation of miR‑382 by propranolol inhibits the progression of IHs via the PTEN-mediated AKT/mTOR pathway.

  1. Prognostic factors in multiple myeloma: definition of risk groups in 410 previously untreated patients: a Grupo Argentino de Tratamiento de la Leucemia Aguda study.

    PubMed

    Corrado, C; Santarelli, M T; Pavlovsky, S; Pizzolato, M

    1989-12-01

    Four hundred ten previously untreated multiple myeloma patients entered onto two consecutive Grupo Argentino de Tratamiento de la Leucemia Aguda (GATLA) protocols were analyzed to identify significant prognostic factors influencing survival. The univariate analysis selected the following variables: performance status, renal function, percentage of bone marrow plasma cells at diagnosis, hemoglobin, and age. A multivariate analysis showed that performance status, renal function, percentage of bone marrow plasma cells, hemoglobin, and age were the best predictive variables for survival. A score was assigned to each patient according to these variables, which led to their classification in three groups: good, intermediate, and poor risk, with a probability of survival of 26% and 10% at 96 months, and 5% at 56 months, and median survival of 60, 37, and 14 months, respectively (P = .0000). In our patient population, this model proved to be superior to the Durie-Salmon staging system in defining prognostic risk groups, and separating patients with significantly different risks within each Durie-Salmon stage.

  2. Tratamiento Quirúrgico de los Meningiomas del Foramen Óptico, Técnicay Resultados de una Serie de 18 Pacientes

    PubMed Central

    Goldschmidt, Ezequiel; Ajler, Pablo; Campero, Álvaro; Landriel, Federico; Sposito, Maximiliano; Carrizo, Antonio

    2014-01-01

    Introducción: los meningiomas del foramen óptico producen un rápido deterioro de la función visual aún cuando su tamaño es pequeño, por eso su diagnóstico y manejo difiere del resto de los meningiomas clinoideos. El propósito de este estudio es presentar la técnica y los resultados de nuestro manejo quirúrgico de meningiomas foraminales (MF). Pacientes y Métodos: se llevó a cabo una revisión de las historias clínicas de 47 pacientes con meningiomas primarios intraorbitarios. Se realizaron 52 cirugías en los pacientes con MF. Se empleó una craneotomía fronto-orbitaria, seguida de una descompresión extradural del canal óptico, resección del componente intraorbitario y exploración intradural del nervio óptico. Resultados: de los 12 pacientes con MF que presentaban la visión conservada, la agudeza visual fue preservada en 7 casos, mejoró en 2, y empeoró en 3. En 18 pacientes, el principal síntoma fue exoftalmos y en 35 pacientes ceguera unilateral. Ocurrieron 6 recurrencias, 2 a 10 años después de la resección quirúrgica. Cinco de ellos fueron reoperados. Se indicó radioterapia después de la recurrencia en 3 pacientes. Conclusión: el manejo de los MF continúa siendo controvertido y frecuentemente se propone un tratamiento conservador. Basados en nuestros hallazgos de frecuente extensión intracraneal, proponemos realizar una resección total o subtotal del tumor, preservando el nervio óptico en pacientes con visión prequirúrgica conservada. PMID:25165616

  3. Treatment of Infantile Hemangioma in Regional Hospitals With eHealth Support: Evaluation of Feasibility and Acceptance by Parents and Doctors

    PubMed Central

    van Os-Medendorp, Harmieke; van Renselaar, Wilco; Breugem, Corstiaan C; Pasmans, Suzanne GMA

    2014-01-01

    Background Since beta blockers became the preferred treatment for infantile hemangiomas (IH), the number of patients eligible for treatment is increasing. Currently treatment of IH with beta blockers is mainly reserved for expert centers, where wait times are lengthening. This demonstrated the need for development of a more efficient and accessible way of providing care for children needing treatment for IH. An eHealth intervention, Hemangioma Treatment Plan (HTP), was developed to treat IH in regional hospitals with online support from an academic doctor. Objective Our goal was to evaluate the feasibility of the eHealth intervention by determining its use, acceptance, and usability. By evaluating the feasibility, usage can be predicted and points for improvement can be defined, thereby facilitating implementation of the intervention. Methods Parents of children with an IH, presenting between October 2012 and November 2013 at the tertiary expert Center for Congenital Vascular Anomalies Utrecht, requiring treatment with a beta blocker, were asked to participate in the digital HTP. Both parents and regional doctors were sent a study questionnaire. Acceptance and usability of the HTP were evaluated by using the modified Technology Acceptance Model. Results A total of 31 parents and 22 regional doctors participated in the eHealth intervention and received the questionnaire, and 25 parents and 15 doctors responded (response rates respectively 81% and 68%). A majority of the parents (96%, 24/25) and the regional doctors (87%, 13/15) considered the eHealth intervention useful in the care for IH. Most parents (76%, 19/25) and over half of the regional doctors (53%, 8/15) found the HTP easy to use. Technical problems using the HTP were reported by 28% (7/25) of the parents and 73% (11/15) of the doctors. The majority of parents (92%, 23/25) felt positive about usage of the HTP during treatment of their child. All regional doctors (100%, 15/15) felt positive about transition

  4. Predictability of Intraocular Lens Power Calculation Formulae in Infantile Eyes With Unilateral Congenital Cataract: Results from the Infant Aphakia Treatment Study

    PubMed Central

    VANDERVEEN, DEBORAH K.; TRIVEDI, RUPAL H.; NIZAM, AZHAR; LYNN, MICHAEL J.; LAMBERT, SCOTT R.

    2014-01-01

    PURPOSE To compare accuracy of intraocular lens (IOL) power calculation formulae in infantile eyes with primary IOL implantation. DESIGN Comparative case series. METHODS The Hoffer Q, Holladay 1, Holladay 2, Sanders-Retzlaff-Kraff (SRK) II, and Sanders-Retzlaff-Kraff theoretic (SRK/T) formulae were used to calculate predicted postoperative refraction for eyes that received primary IOL implantation in the Infant Aphakia Treatment Study. The protocol targeted postoperative hyperopia of +6.0 or +8.0 diopters (D). Eyes were excluded for invalid biometry, lack of refractive data at the specified postoperative visit, diagnosis of glaucoma or suspected glaucoma, or sulcus IOL placement. Actual refraction 1 month after surgery was converted to spherical equivalent and prediction error (predicted refraction – actual refraction) was calculated. Baseline characteristics were analyzed for effect on prediction error for each formula. The main outcome measure was absolute prediction error. RESULTS Forty-three eyes were studied; mean axial length was 18.1 ± 1.1 mm (in 23 eyes, it was <18.0 mm). Average age at surgery was 2.5 ± 1.5 months. Holladay 1 showed the lowest median absolute prediction error (1.2 D); a paired comparison of medians showed clinically similar results using the Holladay 1 and SRK/T formulae (median difference, 0.3 D). Comparison of the mean absolute prediction error showed the lowest values using the SRK/T formula (1.4 ± 1.1 D), followed by the Holladay 1 formula (1.7 ± 1.3 D). Calculations with an optimized constant showed the lowest values and no significant difference between the Holladay 1 and SRK/T formulae (median difference, 0.3 D). Eyes with globe AL of less than 18 mm had the largest mean and median prediction error and absolute prediction error, regardless of the formula used. CONCLUSIONS The Holladay 1 and SRK/T formulae gave equally good results and had the best predictive value for infant eyes. PMID:24011524

  5. Evaluation of the Compliance, Acceptance, and Usability of a Web-Based eHealth Intervention for Parents of Children With Infantile Hemangiomas: Usability Study

    PubMed Central

    Totte, Joan; Breugem, Corstiaan; van Os-Medendorp, Harmieke; Pasmans, Suzanne

    2013-01-01

    Background Infantile hemangiomas (IH) are common benign vascular tumors in children. Recognition and timely referral of high risk IH to specialized centers is important. This might be achieved by involving parents in the care for IH by means of an eHealth intervention. Objective The objective of our study was to evaluate parent compliance, acceptance, and usability of an open access, Web-based eHealth intervention (including e-learning and e-consult) designed to increase parents’ knowledge and (risk) evaluation of IH. Methods A cross-sectional study of parents who completed the eHealth intervention between October 2010 and November 2012 was carried out. All parents were sent a study questionnaire. Questions to evaluate compliance (to the advice given by a dermatologist during e-consultation) were asked. Acceptance and usability were evaluated by using the modified Technology Acceptance Model. Results A total of 224 parents completed the eHealth intervention and received the questionnaire, 135/224 parents responded (response rate was 60.3%). There were 128/135 questionnaires that were completed and included. A total of 110/128 (85.9%) parents were compliant to the advice of the dermatologist. There were 116.8/128 (91.3%) that perceived the eHealth intervention as useful and almost all parents (98.4%, 126/128) found the information in the e-learning clear. There were 29/128 (22.7%) that experienced technical problems. The majority of the parents (94.5%, 121/128) found the eHealth intervention reliable and most of them (98.4%, 126/128) would recommend the eHealth intervention to other parents. Noncompliant parents judged the eHealth intervention significantly less reliable compared to compliant parents (71%, 10/14 versus 97.3%, 107/110; P=.003). Conclusions Parents of children with an IH showed a high compliance (85.9%, 110/128) to the advice of the dermatologist given via our Web-based eHealth intervention. This high compliance might be positively influenced by the

  6. Proposed categorization of pathological states of EBV-associated T/natural killer-cell lymphoproliferative disorder (LPD) in children and young adults: overlap with chronic active EBV infection and infantile fulminant EBV T-LPD.

    PubMed

    Ohshima, Koichi; Kimura, Hiroshi; Yoshino, Tadashi; Kim, Chul Woo; Ko, Young H; Lee, Seung-Suk; Peh, Suat-Cheng; Chan, John K C

    2008-04-01

    EBV-associated T/natural killer (NK)-cell lymphoproliferative disorder (EBV-T/NK LPD) of children and young adults is generally referred to with the blanket nosological term of severe chronic active EBV infection (CAEBV). This disease is rare, associated with high morbidity and mortality, and appears to be more prevalent in East Asian countries. But because there is no grading or categorization system for CAEBV, pathologists and clinicians often disagree regarding diagnosis and therapy. EBV-T/NK LPD includes polyclonal, oligoclonal, and monoclonal proliferation of cytotoxic T and/or NK cells. Moreover, a unique disease previously described as infantile fulminant EBV-associated T-LPD has been identified and overlaps with EBV-T/NK LPD. In the present review a clinicopathological categorization of EBV-T/NK LPD is proposed, based on pathological evaluation and molecular data, as follows: (i) category A1, polymorphic LPD without clonal proliferation of EBV-infected cells; (ii) category A2, polymorphic LPD with clonality; (iii) category A3, monomorphic LPD (T-cell or NK cell lymphoma/leukemia) with clonality; and (iv) category B, monomorphic LPD (T-cell lymphoma) with clonality and fulminant course. Categories A1, A2, and A3 possibly constitute a continuous spectrum and together are equivalent to CAEBV. Category B is the exact equivalent of infantile fulminant EBV-associated T-LPD. It is expected that this categorization system will provide a guide for the better understanding of this disorder. This proposal was approved at the third meeting of the Asian Hematopathology Association (Nagoya, 2006).

  7. [Attention deficit and infantile hyperactivity].

    PubMed

    Berdonces, J L

    2001-01-01

    Hyperactivity is a very common disorder in children (specially males) that today is considered as a clinical syndrome by scientific medicine. American Psychiatric Association establishes 10 symptoms to diagnose it, but they can be resumed in three characteristics: Impulsivity, Distraction, and Hyperactivity. There are different ways to treat it, but psychiatric medication has major risks in children. From complementary medicine we can find several aids in changing diet patterns and supplementing with vitamins or minerals. Chocolate, sugar, sweeteners, additives, preservatives, dyes, can enhance the incidence of this syndrome; instead the supplementation with lipids rich in PUFA's can prevent it. B complex vitamins, magnesium, copper, manganese or calcium can be interesting and in herbal medicine, sedative plants like passion flower, valerian or lemon balm are useful aids. Also liquorice, fennel and berries can be used for different physiological actions.

  8. The Psychoanalysis of Infantile Autism

    ERIC Educational Resources Information Center

    Houzel, Didier

    2004-01-01

    Starting from Frances Tustin's description of failure of the containing function in autistic children due to a splitting between the masculine and feminine aspects of the containing object, the author suggests that the first stage in the psychoanalytic treatment of an autistic child consists in restoring that function by working through what he…

  9. Infantile Scurvy: Two Case Reports

    PubMed Central

    Ghedira Besbes, Leila; Haddad, Samir; Ben Meriem, Chebil; Golli, Mondher; Najjar, Mohamed-fadhel; Guediche, Mohamed-Néji

    2010-01-01

    Background. Ascorbic acid (vitamin C) is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. SCURVY, a disease of dietary ascorbic acid deficiency, is uncommon today. It still exists in high risk groups including economically disadvantaged populations with poor nutrition. The incidence of SCURVY in the pediatric population is very low. Cases Report. Here we report two cases of SCURVY revealed by subperiosteal hematoma in children with cerebral palsy and developmental delay. Conclusion. SCURVY is extremely rare in children. Musculoskeletal manifestations are prominent in pediatric SCURVY. Multiple subperiosteal hematomas are an important indicator for diagnosis. PMID:20976262

  10. Fetal pain: an infantile debate.

    PubMed

    Derbyshire, S W G

    2001-02-01

    The question of whether a fetus can experience pain is an immense challenge. The issue demands consideration of the physical and psychological basis of being and the relation between the two. At the center of this debate is the question of how it is that we are conscious, a question that has inspired the writing of some of our most brilliant contemporary philosophers and scientists, with one commentary suggesting surrender. In my earlier review I attempted to draw together the various strands of thinking that had attacked the question of fetal pain and relate them back to the bigger question of consciousness. In their vituperative response, Benatar and Benatar bite off my finger before looking to where I am pointing. I will examine each of their criticisms.

  11. Infantile Nosocomial Myiasis in Iran

    PubMed Central

    Maleki Ravasan, Naseh; Shayeghi, Mansoureh; Najibi, Babak; Oshaghi, Mohammad Ali

    2012-01-01

    Myiasis, the invasion of live human tissue by larva of Diptera, is reported in the nasal cavity of a 5.5-year-old Iranian girl. She was referred from Golestan Province to the Shaheed Rajaei Heart Center in Tehran. In the 41th day after admission, a live parasite was found in her nasal secretions suction identified presumably as a second instar larvae of a facultative myiasis, Woholfartia nuba (Diptera: Sarcophagidae), on the basis of mtDNA-COI and morphological characteristics. Since presence of the larva was recorded after hospitalization, by definition, this infestation is considered a nosocomial myiasis. PMID:23378974

  12. Utilization of matrix-assisted laser desorption and ionization time-of-flight mass spectrometry for identification of infantile seborrheic dermatitis-causing Malassezia and incidence of culture-based cutaneous Malassezia microbiota of 1-month-old infants.

    PubMed

    Yamamoto, Mikachi; Umeda, Yoshiko; Yo, Ayaka; Yamaura, Mariko; Makimura, Koichi

    2014-02-01

    Matrix-assisted laser desorption and ionization time-of-flight mass spectrometry (MALDI-TOF-MS) has been utilized for identification of various microorganisms. Malassezia species, including Malassezia restricta, which is associated with seborrheic dermatitis, has been difficult to identify by traditional means. This study was performed to develop a system for identification of Malassezia species with MALDI-TOF-MS and to investigate the incidence and variety of cutaneous Malassezia microbiota of 1-month-old infants using this technique. A Malassezia species-specific MALDI-TOF-MS database was developed from eight standard strains, and the availability of this system was assessed using 54 clinical strains isolated from the skin of 1-month-old infants. Clinical isolates were cultured initially on CHROMagar Malassezia growth medium, and the 28S ribosomal DNA (D1/D2) sequence was analyzed for confirmatory identification. Using this database, we detected and analyzed Malassezia species in 68% and 44% of infants with and without infantile seborrheic dermatitis, respectively. The results of MALDI-TOF-MS analysis were consistent with those of rDNA sequencing identification (100% accuracy rate). To our knowledge, this is the first report of a MALDI-TOF-MS database for major skin pathogenic Malassezia species. This system is an easy, rapid and reliable method for identification of Malassezia.

  13. Efectos combinados de la ampliación de la atención primaria de salud y de las transferencias condicionadas de dinero en efectivo sobre la mortalidad infantil en Brasil, 1998–2010*

    PubMed Central

    Guanais, Frederico C.

    2015-01-01

    Objetivos. Examiné los efectos combinados del acceso a la atención primaria mediante el Programa de Salud Familiar (PSF) y las transferencias condicionadas de dinero en efectivo del Programa Bolsa Familia (PBF) sobre la mortalidad infantil posneonatal (MIPN) en Brasil. Métodos. Empleé un análisis ecológico longitudinal usando datos en panel de 4 583 municipios brasileños de 1998 al 2010, con 54 253 observaciones en total. Estimé modelos de regresión de efectos fijos por mínimos cuadrados ordinarios, con la tasa de MIPN como la variable dependiente y el PSF, el PBF y sus interacciones como las principales variables independientes de interés. Resultados. La asociación de una mayor cobertura del PSF con una menor tasa de MIPN se volvió más fuerte conforme aumentaba la cobertura del PBF. En los promedios de todas las demás variables, cuando la cobertura de PBF era 25%, la MIPN predicha fue 5,24 (intervalo de confianza [IC] de 95% = 4,95, 5,53) para una cobertura del PSF de 0%, y de 3,54 (IC de 95% = 2,77, 4,31) para una cobertura del PSF de 100%. Cuando la cobertura del PBF era de 60%, la MIPN predicha fue 4,65 (IC de 95% = 4,36, 4,94) para una cobertura del PSF de 0%, y de 1,38 (IC de 95% = 0,88, 1,89) para una cobertura del PSF de 100%. Conclusiones. El efecto del PSF depende de la ampliación del PBF. Para las poblaciones empobrecidas y subatendidas, la combinación de intervenciones tanto del lado de la oferta como del lado de la demanda podría ser necesaria para mejorar los resultados en salud.

  14. Clinically mild infantile encephalopathy associated with excitotoxicity.

    PubMed

    Hirai, Nozomi; Yoshimaru, Daisuke; Moriyama, Yoko; Honda, Takafumi; Yasukawa, Kumi; Takanashi, Jun-Ichi

    2017-02-15

    Acute infectious encephalopathy is very frequently observed in children in East Asia including Japan. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype in Japan; however, more than 40% of the patients remain unclassified into specific syndromes. To investigate the underlying pathomechanism in those with unclassified acute encephalopathy, we evaluated brain metabolism by MR spectroscopy. Among 20 patients with acute encephalopathy admitted to our hospital during January 2015 to May 2016, 12 could not be classified into specific syndromes. MR spectroscopy was performed in 8 of these 12 patients with unclassified encephalopathy. MR spectroscopy showed an increase of glutamine with a normal N-acetyl aspartate level on days 3 to 8 in three of the 8 patients, which had normalized by follow-up studies. The three patients clinically recovered completely. This study suggests that excitotoxicity may be the underlying pathomechanism in some patients with unclassified mild encephalopathy.

  15. Infantile Cystic Hygroma: An Unusual Perioperative Course

    PubMed Central

    Saini, Suman; Dayal, Madhu; Gupta, Amita

    2017-01-01

    Airway management of an infant with a giant cervical lump may be a difficult task. The anesthesiologist must be prepared to face associated challenges during securing the airway in such patients. We report our experience with One year old infant who presented with huge cystic hygroma in the cervical region leading to recurrent episodes of respiratory tract infection and distress. Surgical removal was needed as sclerotherapy proved ineffective in reducing its size. Proseal laryngeal mask airway was used as a conduit after inhalational induction since airway could not be maintained with bag and mask. The child was tracheostomized postoperatively and also had a prolonged Intensive Care Unit stay. Difficulties encountered in intubation and postoperative management of this child are discussed in this report.

  16. Giant infantile gliosarcoma: magnetic resonance imaging findings.

    PubMed

    Sanal, Hatice Tuba; Bulakbasi, Nail; Kocaoglu, Murat; Onguru, Onder; Chen, Lina

    2008-08-01

    Gliosarcoma is an uncommon variant of glioblastoma multiforme, which is composed of gliomatous and sarcomatous elements. The tumor is rarely encountered in childhood. This case report presents the magnetic resonance imaging characteristics of a giant gliosarcoma in a 3-year-old girl. Size and location of the tumor are described.

  17. Hereditary Pituitary Hyperplasia with Infantile Gigantism

    PubMed Central

    Gläsker, Sven; Vortmeyer, Alexander O.; Lafferty, Antony R. A.; Hofman, Paul L.; Li, Jie; Weil, Robert J.; Zhuang, Zhengping

    2011-01-01

    Context: We report hereditary pituitary hyperplasia. Objective: The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia. Design: The study is a retrospective analysis of three cases from one family. Setting: The study was conducted at the National Institutes of Health, a tertiary referral center. Patients: A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin. Interventions: The condition was treated by total hypophysectomy. Main Outcome Measure(s): We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy. Results: All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys. Conclusions: This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development. PMID:21976722

  18. Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus

    PubMed Central

    Limbrick, David D.; Baksh, Brandon; Morgan, Clinton D.; Habiyaremye, Gakwaya; McAllister, James P.; Inder, Terrie E.; Mercer, Deanna; Holtzman, David M.; Strahle, Jennifer; Wallendorf, Michael J.; Morales, Diego M.

    2017-01-01

    Introduction Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value. Methods CSF levels of amyloid precursor protein (APP) and derivative isoforms (sAPPα, sAPPβ, Aβ42), tau, phosphorylated tau (pTau), L1CAM, NCAM-1, aquaporin 4 (AQP4), and total protein (TP) were measured by ELISA in 20 children with CHC. Two comparative groups were included: age-matched controls and children with other neurological diseases. Demographic parameters, ventricular frontal-occipital horn ratio, associated brain malformations, genetic alterations, and surgical treatments were recorded. Logistic regression analysis and receiver operating characteristic curves were used to examine the association of each CSF protein with CHC. Results CSF levels of APP, sAPPα, sAPPβ, Aβ42, tau, pTau, L1CAM, and NCAM-1 but not AQP4 or TP were increased in untreated CHC. CSF TP and normalized L1CAM levels were associated with FOR in CHC subjects, while normalized CSF tau levels were associated with FOR in control subjects. Predictive ability for CHC was strongest for sAPPα, especially in subjects ≤12 months of age (p<0.0001 and AUC = 0.99), followed by normalized sAPPβ (p = 0.0001, AUC = 0.95), tau, APP, and L1CAM. Among subjects ≤12 months, a normalized CSF sAPPα cut-point of 0.41 provided the best prediction of CHC (odds ratio = 528, sensitivity = 0.94, specificity = 0.97); these infants were 32 times more likely to have CHC. Conclusions CSF proteins such as sAPPα and related proteins hold promise as biomarkers of CHC in infants and young children, and provide insight into the pathophysiology of CHC during this critical period in neurodevelopment. PMID:28212403

  19. Transient infantile hyperthyrotropinaemia. Report of a case.

    PubMed Central

    Miyai, K; Amino, N; Nishi, K; Fujie, T; Nakatani, K; Nose, O; Harada, T; Yabuuchi, H; Doi, K; Yamamoto, T; Satake, R; Tsuruhara, T; Oura, T

    1979-01-01

    A case of transient hyperthyrotropinaemia was found by mass screening for neonatal hypothyroidism using the paired TSH assay method. The patient was a baby boy born at term after a normal pregnancy who grew without any abnormal signs or symptoms. For the first 7 months after birth, his serum TSH was abnormally high while his total serum T4, T3, and free T4, T3 were within normal limits, exept for slightly low free T4 level at 7 months. The raised serum TSH decreased spontaneously to within normal limits after he was 9 months old. PMID:533303

  20. Infantile generalized hypertrichosis caused by topical minoxidil.

    PubMed

    Rampon, Greice; Henkin, Caroline; de Souza, Paulo Ricardo Martins; Almeida, Hiram Larangeira de

    2016-01-01

    Rare cases of hypertrichosis have been associated with topically applied minoxidil. We present the first reported case in the Brazilian literature of generalized hypertrichosis affecting a 5-year-old child, following use of minoxidil 5%, 20 drops a day, for hair loss. The laboratory investigation excluded hyperandrogenism and thyroid dysfunction. Topical minoxidil should be used with caution in children.

  1. [Infantile apnea. The etiopathogenic aspects. I].

    PubMed

    Târdea, A

    1989-01-01

    The paper reports on etiopathogenesis aspects of apnea, on the basis of the literature data. After showing the importance of the problem and the definitions accepted, the author presents the physiological and physiopathological framework of the breathing control. The paper deals with apnea and periodic breathing associated with evident diseases and procedures, and idiopathic apnea. The central, obstructive and mixed types of apnea and their characteristics are described. The final part of the paper dwells on other mechanisms involved in apnea: gastroesophageal flux, endorphines, increased serum level of catecholamines and abnormal awakening hypoxic threshold, tobacco and coffee consumption.

  2. Infantile Maxillary Sinus Osteomyelitis Mimicking Orbital Cellulitis

    PubMed Central

    Krishnan, Nagarajan; Ramamoorthy, Nathan; Panchanathan, Suresh; Balasundaram, Jothiramalingam S

    2014-01-01

    Periorbital soft tissue swelling may result due to primary orbital pathology or from adjacent facio-maxillary or sino-nasal inflammatory causes. Osteomyelitis of maxilla in the pediatric age group is a rare entity in this era of antibiotics. We present an 11-month-old female infant who was brought with peri-orbital selling and purulent nasal discharge. Computed Tomography showed erosions of the walls of maxillary sinus suggestive of osteomyelitis. Culture of sinus scraping showed Staphylococcus aureus growth and the child improved with intravenous cloxacillin therapy. This case is presented due to the rarity of its presentation in this age group and for awareness to consider this entity in children having fever and peri-orbital swelling. PMID:25191055

  3. The Few, the Proud, the Infantilized

    ERIC Educational Resources Information Center

    Fleming, Bruce

    2012-01-01

    The U.S. military-service academies--at West Point (Army), Annapolis (Navy), Colorado Springs (Air Force), and New London (Coast Guard)--are at the center of several debates, both military and civilian. The military is downsizing, and the federal budget is under scrutiny: Do the academies deserve to continue if they are not producing better…

  4. Prophylactic use of probiotics ameliorates infantile colic

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Colic is a common but distressing condition in young infants. We were asked to comment on a recently published study which found that a certain type of probiotic ("good bacteria") could be used to treat colic....

  5. Genetics Home Reference: infantile neuroaxonal dystrophy

    MedlinePlus

    ... These disorders, as well as the more common Alzheimer disease and Parkinson disease , also are associated with ... to have mutations in the PLA2G6 gene. The genetic cause of the condition in these cases is ...

  6. [National consensus on the ketogenic diet].

    PubMed

    Armeno, Marisa; Caraballo, Roberto; Vaccarezza, María; Alberti, M Julia; Ríos, Viviana; Galicchio, Santiago; de Grandis, Elizabeth S; Mestre, Graciela; Escobal, Nidia; Matarrese, Pablo; Viollaz, Rocío; Agostinho, Ariela; Díez, Cecilia; Cresta, Araceli; Cabrera, Analía; Blanco, Virginia; Ferrero, Hilario; Gambarini, Victoria; Sosa, Patricia; Bouquet, Cecilia; Caramuta, Luciana; Guisande, Silvina; Gamboni, Beatriz; Hassan, Amal; Pesce, Laura; Argumedo, Laura; Dlugoszewski, Corina; DeMartini, Martha G; Panico, Luis

    2014-09-01

    Introduccion. La epilepsia es una enfermedad cronica que afecta al 0,5-1% de la poblacion, mayormente de inicio durante la infancia. Un tercio de los pacientes evoluciona hacia una forma refractaria al tratamiento con farmacos antiepilepticos, lo que plantea al equipo de salud un desafio terapeutico. La dieta cetogenica (DC) es un tratamiento no farmacologico efectivo utilizado como un metodo alternativo para el tratamiento de la epilepsia refractaria. Objetivos. Es necesario establecer directrices para utilizar la DC adecuadamente y asi expandir su conocimiento y utilizacion en paises hispanoparlantes. El Comite Nacional de Dieta Cetogenica, dependiente de la Sociedad Argentina de Neurologia Infantil, elaboro este consenso para estandarizar el uso de la DC basandose en la bibliografia publicada y la experiencia clinica. El grupo esta formado por neuropediatras, medicos nutricionistas y licenciadas en nutricion de cinco provincias de Argentina pertenecientes a 10 centros que aplican la DC como tratamiento de la epilepsia refractaria. Desarrollo. Se exponen temas tales como la seleccion del paciente, el asesoramiento a la familia antes del tratamiento, las interacciones de la DC con la medicacion anticonvulsionante, los suplementos, el control de efectos adversos y la retirada de dicha dieta. Conclusiones. La DC es un tratamiento util para los pacientes pediatricos con epilepsia intratable. Es fundamental la educacion y colaboracion del paciente y la familia. El tratamiento debe llevarlo a cabo un equipo interdisciplinar experimentado, siguiendo un protocolo. La formacion de un grupo nacional interdisciplinar, y la publicacion de este consenso, ofrece la posibilidad de orientar a nuevos centros en su implantacion.

  7. Efficacy and safety of alendronic acid in the treatment of osteoporosis in children.

    PubMed

    Martín Siguero, Alberto; Áreas Del Águila, Vera Lucía; Franco Sereno, María Teresa; Fernández Marchante, Ana Isabel; Pérez Serrano, Raúl; Encinas Barrios, Carmen

    2015-11-01

    Objetivos: describir la efectividad y seguridad del uso de acido alendronico en el tratamiento de la osteoporosis en ninos y adolescentes, en condiciones distintas a las autorizadas en la ficha tecnica. Métodos: estudio retrospectivo (2008-2014) de todos los pacientes menores de 18 anos a los que se dispenso acido alendronico para esta indicacion. Los criterios para iniciar tratamiento fueron: densidad mineral osea con puntuacion Z-score ≤ -2,5 DE, antecedentes de fracturas oseas sin traumatismo previo y dolor persistente. Las variables recogidas fueron: demograficas, de tratamiento, clinicas y de seguridad. Se considero efectividad del tratamiento al aumento de la densidad mineral osea hasta obtener Z-score > -2,5 DE. Resultados: un total de 12 pacientes, 8 varones, con una media de edad de 11 anos (} 3 DE), fueron tratados con acido alendronico. Tras un tiempo medio de tratamiento de 2,15 anos (} 1,2 DE), se produjo aumento de la densidad mineral osea en todos los pacientes, 9 de los cuales obtuvieron Z-score > -2,5 DE, por lo que el farmaco se considero efectivo en el 75% de los casos. Ningun paciente presento fracturas oseas ni manifesto efectos adversos durante el tratamiento. Conclusiones: el acido alendronico incremento la densidad mineral osea y se tolero bien en todos los pacientes, por lo que se podria considerar como opcion terapeutica en el tratamiento de la osteoporosis infantil.

  8. [Autism spectrum disorder and epilepsy: the role of ketogenic diet].

    PubMed

    Garcia-Penas, J J

    2016-01-01

    Introduccion. Un 5-40% de los pacientes autistas desarrolla epilepsia. Aunque generalmente se controlan bien con medicacion, hasta un 20-30% de estas epilepsias son refractarias al tratamiento farmacologico. En esta poblacion, la dieta cetogenica (DC) puede ser una terapia alternativa altamente eficaz y debe considerarse seriamente. Objetivo. Revisar el papel de la DC en el tratamiento de la epilepsia infantil refractaria y en los pacientes que asocian autismo y epilepsia. Desarrollo. La DC es un tratamiento eficaz y bien tolerado para las epilepsias infantiles refractarias, incluyendo los pacientes que asocian autismo y epilepsia. Es fundamental caracterizar de forma precisa el sindrome epileptico para conocer cuales son los mejores candidatos para tratar con DC. Por otra parte, el efecto positivo de la DC sobre las alteraciones del metabolismo oxidativo mitocondrial y la evidencia experimental obtenida con DC en animales autistas sugieren que pueda ser una alternativa eficaz en los pacientes con autismo. Conclusiones. Basandose en la utilidad demostrada de la DC en el tratamiento de pacientes con epilepsia y autismo, esta terapia se ha usado en los ultimos años como una terapia alternativa para los pacientes autistas, aunque se desconoce cual es su eficacia real. Es necesario realizar un estudio aleatorizado y controlado para definir el perfil de eficacia y seguridad en esta poblacion.

  9. Como Lo Hago Yo: Tratamiento Quirurgico Del Mielomeningocele

    PubMed Central

    Portillo, Santiago

    2014-01-01

    En Argentina hay plan de fortificación con ácido fólico. Diagnostico prenatal no siempre es correcto. Cierre según técnica. Cerramos músculo. No favorecemos corpectomía temprana en casos de cifosis. Suturamos la plaqueta. Cerramos el plano muscular. Hidrocefalia: Válvula de derivación, generalmente dentro de los dos primeros meses. Ventriculostomía no está indicada. Chiari II. Laminectomia cervical alta. Siringomielia: Derivación desde la cavidad al peritoneo. PMID:24791219

  10. Infantile osteopetrosis: a case report on dental findings.

    PubMed

    Droz-Desprez, D; Azou, C; Bordigoni, P; Bonnaure-Mallet, M

    1992-10-01

    In this paper we have described the case of a 7-yr-old Moroccan osteopetrotic boy, who had received a bone marrow transplant (BMT). He was transplanted from his older brother and, despite immunosuppressive therapy, developed chronic graft-versus-host disease and was placed on corticotherapy. Seven months after the bone marrow transplant, graft versus host disease (GVHD) was stabilized, but corticotherapy had inhibited growth. There was evidence of normalizing bone, his hearing was better but he had not recovered vision. Dental findings before the bone marrow transplant revealed some missing teeth, failure of teeth to erupt and decayed teeth but no enamel hypoplasia. The patient had developed one carious lesion on one unerupted tooth: bacteria seem to have found a way through the gubernaculum dentale. The scanning electronmicrographs showed decayed tooth and tissues fitted into each other. Since the bone marrow transplant, no tooth has erupted. We think that, in this case, failure of tooth eruption would be the sign of osteopetrosis.

  11. [Development of the normal infantile hip joints assessed by MRI].

    PubMed

    Wierusz-Kozłowska, M; Ziemiański, A; Kruczyński, J; Borkowski, W

    2000-01-01

    The paper provides an overview of the time of appearance of the secondary ossification centers and closure of the growth plates of the acetabulum and proximal epiphysis of the femur: the triradiate cartilage, the acetabular roof growth cartilage, the subcapital growth cartilage, the growth cartilage of the major trochanter, the growth cartilage of the minor trochanter. The study is based upon 62 MRI scans of healthy hips in 45 patients aged 3-21. The examined hips showed no pathologic traits--neither in the MRI scan nor in X-ray investigation. In Spin Echo and Turbo Spin Echo sequential imaging all obtained slices were used, on GRADIENT ECHO: FISP 3D, FLASH 2D, and FLASH 3D FAT SAT only chosen slices were included in the study. This way the following results were obtained: the ossification center of the major trochanter appears at the age of 3 in girls and at the age of 6 in boys, while the ossification center of the minor trochanter appears at the age of 6 in both sexes. The times of complete ossification of following growth cartilages were observed: for the triradiate cartilage ossification was observed at age 12-15 in girls and 15-16 in boys; for the cartilage of the acetabular roof ossification was noted at age 12-15 in girls and 15-18 in boys; ossification in the subcapital growth cartilage occurred at age 15-17 in girls and 16-18 in boys; the major trochanter growth cartilage ossifies at age 15-16 in girls and 16-18 in boys; for the minor trochanter ossification of the growth cartilage occurs at age 14-16 in girls and at age 16-18 in boys. The secondary ossification center of the pubic bone appears at age 9-11 in girls and 13-16 in boys and the secondary ossification center of the acetabular roof appears at age 13-17 in girls and boys. This study expand our knowledge on the development of the hip joint and facilitate the assessment of hip pathology.

  12. Infantile meningitis in England and Wales: a two year study.

    PubMed Central

    de Louvois, J; Blackbourn, J; Hurley, R; Harvey, D

    1991-01-01

    A two year prospective study identified 1922 cases of meningitis in children under 1 year of age. A further 201 cases were identified from other sources. The annual incidence of meningitis during the first year of life was 1.6/1000; during the first 28 days of life it was 0.32/1000, and among postneonatal infants it was 1.22/1000. The male:female ratio was 1.4:1. The overall case fatality rate was 19.8% for neonates and 5.4% for postneonatal infants. Two thirds of deaths identified in the study, 50% of all deaths, were not attributed to meningitis by the Office of Population Censuses and Surveys. Group B beta haemolytic streptococci (28%), Escherichia coli (18%), and Listeria monocytogenes (5%) were most frequently isolated from neonates and Neisseria meningitidis (31%), Haemophilus influenzae (30%), and Streptococcus pneumoniae (10%) from postneonatal infants. At 2-6 months of age N meningitidis meningitis was most common, and at 7-12 months H influenzae predominated. Meningitis caused by group B beta haemolytic streptococci occurred up to 6 months of age and had a consistent mortality of 25%. Neonatal meningitis due to Gram negative enteric rods had a mortality of 32%. Low birth weight was a significant predisposing factor for both neonates and postneonatal infants. In both groups mortality was significantly higher among children admitted in coma. There was no seasonal variation in incidence in either group. Neonates were treated with either group. Neonates were treated with either chloramphenicol (50%) or gentamicin (48%) usually in combination with a penicillin; 40% received a third generation cephalosporin. Of the 1472 postneonatal infants treated 84% received chloramphenicol with a penicillin and 10% received a third generation cephalosporin. Relapse occurred in 49 patients and three died. Eighteen babies coned as a result of raised intracranial pressure, including four neonates, and four died. Mortality among the 133 (7%) children who received steroids was significantly higher than in the rest of the study group. PMID:2039250

  13. Biochemical observations in Blount's disease (infantile tibia vara).

    PubMed Central

    Giwa, Olubunmi G.; Anetor, John I.; Alonge, Temitope O.; Agbedana, Emmanuel O.

    2004-01-01

    Blount's disease or congenital tibia vara is a clinical entity characterized by tibia bowing, tibia torsion, and beaking of the medial tibia metaphysis on plain radiograph. In our environment, burnt-out rickets patients with biochemical and radiological diagnosis of rickets who after treatment still have residual bone changes despite normal bone biochemistry) can also present with similar clinical and radiological features as Blount's disease. However, certain biochemical variations, including antioxidants, may serve as a basis for differentiation between these two disorders. The serum levels of calcium, inorganic phosphate, zinc, copper, and alkaline phosphatase in 15 patients (10 females and five males) aged between two- and five years (mean 3.8 +/- 1.1 (SD)) with clinical and radiological features of Blount's disease were determined. The mean weight of the patients with Blount's disease was 14.0 +/- 2.4 kg (range: 11.5-16.3 kg). Fifteen subjects (nine females and six males) matched for age and sex without clinical features of any metabolic bone and/or nutritional diseases who were attending the surgical outpatient clinic served as control subjects. The serum concentrations of inorganic phosphate and calcium, though lower in patients with Blount's disease compared with controls, did not reach statistical significance. Alkaline phosphatase activity was increased in the serum of all patients with Blount's disease. In addition, there was an observed significant reduction in serum concentration of zinc (P < 0.03) compared to the control subjects. As for calcium level, the concentration of serum copper in Blount's patients was reduced, but this was not statistically significant. These biochemical observations, especially those of the antioxidant micronuent zinc, may serve as a basis for the differentiaion of the sometimes clinically inseparable disorders of Blount's and rckets and may aid in early differential diagnosis, appropriate treatment as well as prevention of complications. PMID:15481748

  14. Infantile childhood onset of spinocerebellar ataxia type 2.

    PubMed

    Di Fabio, Roberto; Santorelli, Filippo; Bertini, Enrico; Balestri, Martina; Cursi, Laura; Tessa, Alessandra; Pierelli, Francesco; Casali, Carlo

    2012-06-01

    Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s.Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1-year-old girl who presented with facial dysmorphism,dystonic features, developmental delay, and retinitis pigmentosa.She was diagnosed as carrying an expanded CAG/CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.

  15. Materno-infantilism, feminism and maternal health policy in Brazil.

    PubMed

    Diniz, Simone

    2012-06-01

    In the last days of 2011, President of Brazil Dilma Rousseff issued a provisional measure (or draft law) entitled "National Surveillance and Monitoring Registration System for the Prevention of Maternal Mortality" (MP 557), as part of a new maternal health programme. It was supposed to address the pressing issue of maternal morbidity and mortality in Brazil, but instead it caused an explosive controversy because it used terms such as nascituro (unborn child) and proposed the compulsory registration of every pregnancy. After intense protests by feminist and human rights groups that this law was unconstitutional, violated women's right to privacy and threatened our already limited reproductive rights, the measure was revised in January 2012, omitting "the unborn child" but not the mandatory registration of pregnancy. Unfortunately, neither version of the draft law addresses the two main problems with maternal health in Brazil: the over-medicalisation of childbirth and its adverse effects, and the need for safe, legal abortion. The content of this measure itself reflects the conflictive nature of public policies on reproductive health in Brazil and how they are shaped by close links between different levels of government and political parties, and religious and professional sectors.

  16. Infantile Autism Associated with the Fragile-X Syndrome.

    ERIC Educational Resources Information Center

    Meryash, David L.; And Others

    1982-01-01

    A six-year-old mentally retarded child is presented with a clinical picture consistent with the diagnosis of childhood autism. Chromosomal studies revealed a male karyotype with approximately 11 percent of the cells counted containing a fragile site on the X chromosome. (Author)

  17. Infantile Accountability: When Big Data Meet Small Children

    ERIC Educational Resources Information Center

    Wrigley, Terry; Wormwell, Louise

    2016-01-01

    This article examines a government attempt to impose testing of 4-year-olds as a baseline against which to "hold primary schools accountable" for children's subsequent progress. It examines the various forms of baseline testing in this experiment and analyses the misleading claims made for the "predictive validity" of baseline…

  18. [Diffuse xanthogranuloma as a cause of infantile heterochromia].

    PubMed

    Rohrbach, J M; Stübiger, N; Küper, K; Dopfer, R

    1994-07-01

    A 7-month-old female infant presented with a heterochromia and an anisocoria. A spontaneous hyphema and a secondary glaucoma had developed. Under topical and systemic steroid therapy the eye improved continuously. At the time of the last ocular examination the hyphema had resorbed, and the intraocular pressure was normal. Heterochromia had almost completely vanished, and dilation of the pupil was much better. Since even a massive juvenile xanthogranuloma of the iris responds well to steroids, operative and radiation treatment should be limited to cases refractory to antiinflammatory drug therapy.

  19. [Mentalisation and affect regulation--how the infantile self develops].

    PubMed

    Kalisch, Konrad

    2012-01-01

    The text comprises the different elements of the psychoanalytic mentalization theory of Peter Fonagy et al. and tries to explain them. Part of this theory are above all the affect mirroring as well as the affect reciprocity theory and the two modes of the "as if" character and the psychic equivalence (playing with reality). You can find clear examples for each of these theoretical components. Moreover there are many correlations to other authors and their respective development theories: that is to Wilfred Bion, Donald Winnicott and John Bowlby. The text is based above all on Martin Dornes' approaches on this topic (2004, 2006).

  20. Current Approaches to the Understanding of Early Infantile Autism.

    ERIC Educational Resources Information Center

    Rickman, David L.

    This review of the literature provides summaries of the genetic, neurophysiological, and biochemical approaches to understanding autism, with special reference to neuroanatomic, cognitive, and neuropsychological studies of this disorder. Available instruments for the assessment of autism and various treatment alternatives including drug therapy,…

  1. Delayed Language Development Due to Infantile Thiamine Deficiency

    ERIC Educational Resources Information Center

    Fattal-Valevski, Aviva; Azouri-Fattal, Iris; Greenstein, Yoram J.; Guindy, Michal; Blau, Ayala; Zelnik, Nathanel

    2009-01-01

    The aim of this study was to investigate the language development of 20 children who had been exposed to thiamine (vitamin B[subscript 1]) deficiency in infancy due to feeding with soy-based formula that was accidentally deficient of thiamine. In this case-control study, 20 children (12 males, eight females; mean age 31.8 mo [SD 4.1], range 24-39…

  2. Effect of a synbiotic on infantile acute gastroenteritis.

    PubMed

    Gundogdu, Z

    2013-09-01

    Acute gastroenteritis is still a common disease worldwide. Synbiotics are being used to alleviate the effects of acute gastroenteritis-related diarrhoea. The objective of this study was to determine the efficacy of a synbiotic in reducing the duration of diarrhoea in children with acute gastroenteritis. The study has been carried out on data gathered from children with acute gastroenteritis between the age of three months and 14 years seen in paediatric polyclinics between August 2009 and April 2010. While synbiotic group patients got a sachet containing Bifidobacterium lactis 2211 with a minimum of 5×10⁶ cfu active bacteria and 900 mg chicory inulin twice daily for five days together with an oral rehydration solution, the control group only received an oral rehydration solution. Therapy with synbiotic plus an oral rehydration solution shortened the duration of acute diarrhoea in children by approximately one day compared to oral rehydration solution only.

  3. Genetics Home Reference: infantile-onset spinocerebellar ataxia

    MedlinePlus

    ... and Twinky. These proteins are found in the mitochondria , which are structures within cells that convert the ... food into a form that cells can use. Mitochondria each contain a small amount of DNA, known ...

  4. The Neuropsychological Approach in a Case of Progressive Infantile Dementia

    ERIC Educational Resources Information Center

    Grewel, Annemarie; Grewel, F.

    1970-01-01

    Refined educational observation which allowed recognition of symptoms which were initial signs of a cerebral disease (Spielmeyer-Vogts disease) and which were corroborated by neurological and psychoneurological examination is recommended to replace diagnostic procedures utilizing standardized tests. (KW)

  5. Ontogeny of Infantile Oral Reflexes and Emerging Chewing.

    ERIC Educational Resources Information Center

    Sheppard, Justine Joan; Mysak, Edward D.

    1984-01-01

    To document movement patterns and to examine developmental interrelationships, the ontogeny of rooting, lip, lateral tongue, mouth opening, biting, and Babkin reflexes and the development of emerging chewing behaviors were observed in two normal infants over a period from 1 week to 35 weeks of age. (Author/RH)

  6. Snout and Visual Rooting Reflexes in Infantile Autism. Brief Report.

    ERIC Educational Resources Information Center

    Minderaa, Ruud B.; And Others

    1985-01-01

    The authors conducted extensive neurological evaluations of 42 autistic individuals and were surprised to discover a consistently positive snout reflex in most of them. Difficulties with assessing the reflex are noted. The authors then reassessed the Ss for a series of primitive reflexes which are interpreted as signs of diffuse cortical brain…

  7. Infantile spasms: review of the literature and personal experience

    PubMed Central

    2010-01-01

    This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject. The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects. Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case. However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded. PMID:20181122

  8. A Case of Infantile Cardiac Rhabdomyoma Complicated by Tuberous Sclerosis

    PubMed Central

    Serikawa, Takehiro; Takahashi, Yasuhiro; Kikuchi, Akira; Takakuwa, Koichi; Usuda, Tohei; Hasegawa, Satoshi; Tanaka, Kenichi

    2010-01-01

    We experienced a case with fetal cardiac tumor, which was diagnosed by prenatal ultrasonographic examination, and the diagnosis was confirmed after birth. A pregnancy woman of the 26th week of gestation was referred to our hospital for close examinations of fetal cardiac tumor. Ultrasonographic examinations revealed single homogeneous tumor with the diameter of 14 mm intracardiac space. The tumor was considered to emerge from the ventricular septum and to be occupied in left ventricle. Other cardiac abnormalities were not detected. The fetus was diagnosed to be complicated with the intracardiac tumor, and with the possible rhabdomyoma of heart. The serial ultrasonographic examinations revealed that the fetal cardiac function was normal. The size of the tumor gradually increased, although the fetal cardiac function revealed within normal range. The patient delivered a female infant weighing 2716g with the Apgar score of 9 and 10 at one and 5 minutes after delivery. The infant was confirmed to have cardiac tumors after examination by pediatric cardiologist, and the cardiac function of the infant was diagnosed as normal condition. The computed tomography of the head revealed the intracranial multiple calcification lesions, which indicated the symptoms of tuberous sclerosis.

  9. Compulsive masturbation in infantile autism treated by mirtazapine.

    PubMed

    Albertini, Giorgio; Polito, Emilena; Sarà, Marco; Di Gennaro, Giancarlo; Onorati, Paolo

    2006-05-01

    This case report describes a child with a severe autistic syndrome worsened by hypersexual behavior consisting of compulsive masturbatory activity. Selective serotonin reuptake inhibitors have been reported to be beneficial in reducing hypersexual behaviors. A treatment with mirtazapine improved the entire clinical autistic picture with the disappearance of masturbation. This result suggests that selective serotonin reuptake inhibitors could be useful and promising tools in the treatment of hypersexual behaviors in children with autistic disorders. Moreover, the general, and in some ways unexpected, improvement of the social interaction, communication, and imagination, the dramatic reduction of aloof mannerisms, stereotypes, aggressiveness, and inappropriate emotional response to frustrations, as well as the first appearance of the pragmatic use of language and a strong impetus to emotional development disclosed a new spectrum of possible applications of these drugs, and mirtazapine in particular, suggesting the need for new and more extensive studies on the pharmacotherapy of autism.

  10. Five probiotic drops a day to keep infantile colic away?

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Colic is a common but distressing condition in young infants. We were asked to comment on a recently published study which found that a certain type of probiotic ("good bacteria") could be used to treat colic....

  11. Treatment of congenital aniridia associated with subluxated infantile cataract.

    PubMed

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-01-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0.08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109 degrees in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of delta6 degrees, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25 Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  12. Treatment of congenital aniridia associated with subluxated infantile cataract.

    PubMed

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-06-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0,08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109° in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of Δ6º, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  13. Evo-devo of infantile and childhood growth.

    PubMed

    Hochberg, Ze'ev; Albertsson-Wikland, Kerstin

    2008-07-01

    Human size is a tradeoff between the evolutionary advantages and disadvantages of being small or big. We now propose that adult size is determined to an important extent during transition from infancy to childhood. This transition is marked by a growth spurt. A delay in the transition has a lifelong impact on stature and is responsible for 44% of children with short stature in developed countries and many more in developing countries. Here, we present the data and theory of an evolutionary adaptive strategy of plasticity in the timing of transition from infancy into childhood to match the prevailing energy supply. We propose that humans have evolved to withstand energy crises by decreasing their body size, and that evolutionary short-term adaptations to energy crises trigger a predictive adaptive response that modify the transition into childhood, culminating in short stature.

  14. Infantile hemangioma: pulsed dye laser versus surgical therapy

    NASA Astrophysics Data System (ADS)

    Remlova, E.; Dostalova, T.; Michalusova, I.; Vranova, J.; Jelinkova, H.; Hubacek, M.

    2014-05-01

    Hemangioma is a mesenchymal benign tumor formed by blood vessels. Anomalies affect up to 10% of children and they are more common in females than in males. The aim of our study was to compare the treatment efficacy, namely the curative effect and adverse events, such as loss of pigment and appearance of scarring, between classical surgery techniques and laser techniques. For that reason a group of 223 patients with hemangioma was retrospectively reviewed. For treatment, a pulsed dye laser (PDL) (Rhodamine G, wavelength 595 nm, pulsewidth between 0.45 and 40 ms, spot diameter 7 mm, energy density 9-11 J cm-2) was used and the results were compared with a control group treated with classical surgical therapy under general anesthesia. The curative effects, mainly number of sessions, appearance of scars, loss of pigment, and relapses were evaluated as a marker of successful treatment. From the results it was evident that the therapeutic effects of both systems are similar. The PDL was successful in all cases. The surgery patients had four relapses. Classical surgery is directly connected with the presence of scars, but the system is safe for larger hemangiomas. It was confirmed that the PDL had the optimal curative effect without scars for small lesions (approximately 10 mm). Surgical treatment under general anesthesia is better for large hemangiomas; the disadvantage is the presence of scars.

  15. Infantile intracranial aneurysm of the superior cerebellar artery.

    PubMed

    Del Santo, Molly Ann; Cordina, Steve Mario

    2016-03-03

    Intracranial aneurysms in the pediatric population are rare. We report a case of a 3-month-old infant who presented with inconsolable crying, vomiting, and sunset eye sign. CT revealed a subarachnoid hemorrhage, with CT angiogram revealing a superior cerebellar artery aneurysm. An external ventricular drain was placed for acute management of hydrocephalus, with definitive treatment by endovascular technique with a total of six microcoils to embolize the aneurysm. Serial transcranial Dopplers revealed no subsequent vasospasm. Although aneurysms in the pediatric population are rare, once the diagnosis is established, early treatment results in better outcomes.

  16. Infantile intracranial aneurysm of the superior cerebellar artery.

    PubMed

    Del Santo, Molly Ann; Cordina, Steve Mario

    2016-02-29

    Intracranial aneurysms in the pediatric population are rare. We report a case of a 3-month-old infant who presented with inconsolable crying, vomiting, and sunset eye sign. CT revealed a subarachnoid hemorrhage, with CT angiogram revealing a superior cerebellar artery aneurysm. An external ventricular drain was placed for acute management of hydrocephalus, with definitive treatment by endovascular technique with a total of six microcoils to embolize the aneurysm. Serial transcranial Dopplers revealed no subsequent vasospasm. Although aneurysms in the pediatric population are rare, once the diagnosis is established, early treatment results in better outcomes.

  17. Genetics Home Reference: infantile-onset ascending hereditary spastic paralysis

    MedlinePlus

    ... and paraplegia result from degeneration (atrophy) of motor neurons , which are specialized nerve cells in the brain ... highest amounts in the brain, particularly in motor neurons. Alsin turns on (activates) multiple proteins called GTPases ...

  18. Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension.

    PubMed

    McGovern, Eiméar; McNally, Paul; O'Sullivan, Maureen; Phelan, Ethna; Sumner, Kelli; Best, D Hunter; McMahon, Colin J

    2016-04-01

    We describe the cases of two children who both presented in infancy with recurrent severe pulmonary hypertensive crises. Exhaustive clinical work-up failed to identify an underlying aetiology. The patients had no clinical response to steroids, immunoglobulins, or pulmonary vasodilators. Post-mortem examination revealed extensive invasive pulmonary capillary haemangiomatosis. There was no evidence of pulmonary venous occlusive disease. Given the lethal nature of this condition, early consideration of referral to a lung transplant centre should be considered in selected patients.

  19. Investigating Memory Development in Children and Infantile Amnesia in Adults

    ERIC Educational Resources Information Center

    Kazemi Tari, Somayeh

    2008-01-01

    Although many researchers have worked on memory development, still little is known about what develops in memory development. When one reviews the literature about memory, she encounters many types of memories such as short term vs. long term memory, working memory, explicit vs. implicit memory, trans-saccadic memory, autobiographical memory,…

  20. [Reversible porencephalic cyst related to shunt dysfunction].

    PubMed

    Santín-Amo, José M; Rico-Cotelo, María; Serramito-García, Ramón; Gelabert-González, Miguel; Allut, Alfredo G

    2014-03-16

    Introduccion. El tratamiento quirurgico de la hidrocefalia es uno de los procedimientos quirurgicos mas habituales en la neurocirugia pediatrica, y las derivaciones ventriculoperitoneales constituyen una herramienta fundamental en el tratamiento de la hidrocefalia tanto infantil como del adulto. Las complicaciones de las valvulas son relativamente frecuentes, sobre todo en la poblacion pediatrica, y, entre estas, las mas habituales incluyen: las obstrucciones, las desconexiones, el hiperdrenaje y las infecciones. Caso clinico. Niña de 7,5 años, portadora de una valvula ventriculoperitoneal, que presentaba cefalea intermitente. Un estudio con tomografia computarizada demostro una lesion quistica temporal derecha. Tras la revision valvular, la tomografia computarizada evidencio la reduccion del quiste. Conclusiones. La formacion de una cavidad porencefalica es una complicacion poco frecuente. Se relaciona con problemas en el cateter distal en pacientes con ventriculos dilatados y de las que existen escasas referencias en la bibliografia.