Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of Sylvius

Hamada, Hiromi; Watanabe, Hideki; Sugimoto, Masaki; Yasuoka, Mana; Yamada, Naoki; Kubo, Takeshi

doi:10.1002/(sici)1097-0223(199911)19:11<1067::aid-pd696>3.0.co;2-m

Cited by 22 publications

(5 citation statements)

References 8 publications

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“…It is inherited in an X‐linked recessive manner and is caused by L1CAM mutations [Jouet et al, 1994; Vits et al, 1994]. Several cases of autosomal recessive or autosomal dominant nonsyndromic hydrocephalus due to aqueductal stenosis have been reported [Vanlieferinghen et al, 1987; Verhagen et al, 1998; Hamada et al, 1999; Haverkamp et al, 1999; Lapunzina et al, 2002], although the genes causing this type are currently unknown.…”

Section: Introductionmentioning

confidence: 99%

Preparation and characterization of 4A zeolite‐filled mixed matrix membranes for pervaporation dehydration of isopropyl alcohol

Prasad

Swamy²,

Sudhakar

et al. 2011

J of Applied Polymer Sci

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Sodium carboxymethylcellulose/poly (vinyl alcohol) mixed matrix membranes filled with different amounts 4A zeolite (0,5,10,15, and 20 wt %) were prepared by solution casting method. Prepared membranes were crosslinked with GA and used for pervaporation dehydration of isopropyl alcohol of different feed mixtures at 35 C. On increment in zeolite content in the membrane it was found the improvement in the performance of the membrane, due to its hydrophilic nature and molecular sieving effect in addition to its favorable interaction with hydrophilic sodium carboxymethylcellulose and polyvinyl alcohol. The structure and chemical constituents of the MMM's were investigated by attenuated total reflectance Fourier transform infrared spectroscopy. Thermal stability of the membranes was assessed by DSC and TGA techniques. Crystallinity of the membranes was assessed using X-ray diffraction, and the morphological properties were assessed by scanning electron microscopy. Mechanical properties were also carried out to determine the tensile strength and % of elongation at break using universal testing machine. It was found that the mechanical strength increases with increase in the zeolite content upto 15 wt % of zeolite with an optimum tensile strength of 113.31 N/mm 2 . Pervaporation was carried out to asses the membrane performance, the highest flux and selectivity obtained is 0.584 kg/m 2 /h and 6945 for NaCMCA20 and NaCMCA15, respectively, for a feed composition containing 17.5 and 10 wt % of water in the feed and further swelling studies also supporting the pervaporation results.

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Section: Introductionmentioning

confidence: 99%

Preparation and characterization of 4A zeolite‐filled mixed matrix membranes for pervaporation dehydration of isopropyl alcohol

Prasad

Swamy²,

Sudhakar

et al. 2011

J of Applied Polymer Sci

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“…But, we clearly implicate the 15q11.2q13.1 triplication in SAS, keeping in mind that the 15q13.3 duplication can contribute to the alteration of the chromatin structure and the imprinting control. Moreover, familial SAS was reported with probably autosomal recessive (Verhagen et al, ) or dominant inheritance and variable expression (Hamada et al, ). In our series, no parental consanguinity or recurrence was reported.…”

Section: Discussionmentioning

confidence: 99%

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations

Darouich

Boutaud

Bessières

et al. 2017

Birth Defects Research

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The neuropathological analysis is a powerful tool in the diagnosis of the fetal CVD pathogenic mechanisms and to identify homogeneous groups. The paucity of molecular diagnosis, notably in the major groups of midbrain/hindbrain patterning defects and hemorrhagic and perfusion failure, highlights the needs of future research to improve our current knowledge on CVD causes. Birth Defects Research 109:1586-1595, 2017. © 2017 Wiley Periodicals, Inc.

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“…15,16 Congenital hydrocephalus is genetic in 2% to 15% of cases. 17 Although X-linked hydrocephalus due to L1CAM mutations is the most commonly recognized cause, there are in the literature very rare cases of autosomal recessive [18][19][20] and 2 reports of families with apparently autosomal dominant 21,22 hydrocephalus with aqueductal stenosis. One family with autosomal dominant hydrocephalus had in addition a situs inversus anomaly.…”

Section: Discussionmentioning

confidence: 99%

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

2012

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We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia-associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present. Diseases that affect cilia became recently the object of considerable interest. Disturbed ciliary function underlies some human diseases of the brain, retina, respiratory system, liver, and kidney although their pathophysiology is incompletely understood. Keywords

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Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of Sylvius

Cited by 22 publications

References 8 publications

Preparation and characterization of 4A zeolite‐filled mixed matrix membranes for pervaporation dehydration of isopropyl alcohol

Preparation and characterization of 4A zeolite‐filled mixed matrix membranes for pervaporation dehydration of isopropyl alcohol

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

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