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Harlequin ichthyosis unmasked: a defect of lipid transport.

Harlequin ichthyosis (HI)--the most severe form of keratinizing disorders, often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. In this issue of the JCI, Akiyama et al. report that mutations in ABCA12 caused defective lipid transport that significantly impacted normal development of the skin barrier. Lipid secretion was recovered after corrective ABCA12 gene transfer into patient keratinocytes. These results should allow for early prenatal diagnosis of HI and lend hope to the possibility of a specific treatment for this devastating disorder.

ATP-Binding Cassette Transporters↗

Management of severe feeding dysfunction in children with fetal alcohol syndrome.

In the past three years, we have seen three children who required prolonged inpatient admissions for severe feeding dysfunction resulting in nutritional and growth problems. The pregnancies were significant for severe maternal alcohol abuse during the entire pregnancy. All of the subjects had multiple physical findings and dysmorphic features seen in children with mild to severe fetal alcohol syndrome. Feeding evaluations showed significant delays in oral motor development. Specific oral motor dysfunction was not a commonality and did not appear to be a major determinant in delays in feeding development. Continued assessment revealed that the babies had limited suck patterns and were consistently noted to tire easily. Each required feeding by either gastrostomy and/or nasogastric feeding for prolonged periods of time. They started initial feeding by mouth at about 8 to 10 months. The times for complete oral feeding were 14, 17 and 18 months.

Child Development↗

[Clinical observation of cases operated in the Department of Oral and Maxillofacial Surgery, University of Erlangen-Nürnberg, in 1987-1988--especially cases of fractures and maxillofacial deformities].

In the Department of Oral and Maxillofacial Surgery, University Erlangen-Nürnberg, there were 1,140 cases operated during the period of one year between August 1987 and July 1988. Among them, 198 were fracture cases, 139 tumor cases and 88 deformity cases. As compared with Japan, there were many operations on fracture cases by the Steinhäuser mini-plate under general anesthesia and the time required for the intermaxillary fixation was generally 7-10 days while in Japan it was 5-6 weeks without the mini-plate. As for the time required for the postoperative intermaxillary fixation for maxillofacial deformity, it was usually 1 week after the operation by screw or mini-plate fixation of the bones while in most of Japanese institutions it was also 5-6 weeks after the operation by circumferential wiring fixation of the bones. The prognosis of the cases of fracture and maxillofacial deformity by short-period intermaxillary fixation was good. Short-period intermaxillary fixation by screw or mini-plate bone fixation is discussed by reviewing the literature on this study.

Bone Plates↗

High incidence of Helicobacter pylori infection in patients with systemic sclerosis: association with Sicca Syndrome.

To test the incidence of Helicobacter pylori (HP) infection in patients affected by Systemic Sclerosis (SSc) a swift urease test, followed by histologic confirmation for the presence of HP was verified in 35 SSc patients. Serum samples from 46 patients were tested for HP IgG antibodies by an enzyme-linked immunosorbent assay. Urease test demonstrated the presence of HP in 23 patients out of 35 (66%); 12 of them were negative to colonization. A Sicca syndrome, with abnormal Schirmer’s test and dry mouth was detected in 66% of the patients. 78% of the patients with Sicca syndrome had a concomitant HP infection, compared to 42% of those without the syndrome (p=0,029). Altered peristalsis and reduced salivary clearance usually encourage HP infection. In patients with Systemic Sclerosis we found an enhanced frequency of HP infection.

Journal Article↗

[Allergic rhinitis. Coexistent diseases and complications. A review and analysis].

Allergic rhinitis (AR) is rarely found in isolation and needs to be considered in the context of systemic allergic disease associated with numerous comorbid disorders, including asthma, chronic middle ear effusions, sinusitis, and lymphoid hypertrophy with obstructive sleep apnea, disordered sleep, and consequent behavioral and educational effects. The coexistence of allergic rhinitis and asthma is complex. First, the diagnosis of asthma may be confused by symptoms of cough caused by rhinitis and postnasal drip. This may lead to either inaccurate diagnosis of asthma or inappropriate assessment of asthma severity with over treatment of the patient. The term "cough variant rhinitis" is therefore proposed to describe rhinitis that manifest itself primarily as cough that results from postnasal drip. Allergic rhinitis, however, has also a causal role in asthma; it appears both to be responsible for exacerbating asthma and to have a role in its pathogenesis. Postnasal drip with nasopharyngeal inflammation leads to a number of other conditions. Thus sinusitis is a frequent extension of rhinitis and is one of the most frequently missed diagnoses. Allergen exposure in the nasopharynx with release of histamine and other mediators can cause Eustachian tube obstruction possibly leading to middle ear effusions. Chronic allergic inflammation of the upper airway causes lymphoid hypertrophy with prominence of adenoidal and tonsillar tissue. This may be associated with poor appetite, poor growth, obstructive sleep apnea, mouth breathing, pharyngeal irritation and dental abnormalities. Allergic rhinitis is therefore part of a spectrum of allergic disorders that can profoundly affect the well being and quality of life of a child. Prospective cohort studies are required to assess the disease burden caused by allergic rhinitis in childhood, its consequences due to delay in diagnosis and treatment, and to further assess the potential educational impairment that may result. Because allergic rhinitis is part of a systemic disease process, its diagnosis and management require a coordinated approach by the specialist in allergy-immunology-rhinology rather than a fragmented, organ based approach. There are other clinical presentations such as recurrent infections of the upper respiratory tract, as well as pharyngeal and laryngeal disorders.

Adult↗

Susceptibility of Nubian goats to mercury poisoning in the Sudan.

Twelve Nubian goats were given single or repeated oral dosages of mercuric chloride at 10, 20 and 40 mg/kg and died or were killed in extremis at various times after dosing (18 hours-18 days). The main signs of poisoning were anorexia, frothing at the mouth, respiratory distress, epistaxis, bloat, diarrhoea, abnormal posture and recumbency. An increase in the activity of GOT and in the concentrations of urea and inorganic phosphate and a decrease in total protein and calcium concentrations in the serum were detected. The main lesions were dilatation and necrosis of the proximal convoluted tubules, shrinkage and disappearance of the glomerular tufts, varying amounts of acidophilic homogenous material in the lumens of the affected tubules of the kidney, enteritis, hepatocellular degeneration and/or necrosis and pulmonary congestion, haemorrhage, oedema and emphysema. The changes in the red blood cells indicated anaemia.

Animals↗

[Partial trisomy 9 with partial retention of the long arm (author's transl)].

A new case of partial trisomy 9 is reported. The characteristic clinical features consist of: 1. Microcephaly, enophthalmos, antimongloid slant of the eyes, hypertelorism, protruding ears, large nose, downward slant of the mouth corners, hypoplasia of phalanges. 2. Abnormal dermal ridge system and crease picture: irregularities of the ridge pattern of finger prints, palms and soles, a much reduced total ridge count (TRC), transverse palmar crease on both palms, underdevelopment of the C line. 3 Severe mental retardation. However, this case represents a variation of the chromosomal anomaly described so far, in as much as an important part of the long arm of the additional chromosome 9 is present.

Age Determination by Skeleton↗