The prone position during surgery and its complications: a systematic review and evidence-based guidelines.

Surgery in the prone position is often a necessity when access to posterior anatomic structures is required. However, many complications are known to be associated with this type of surgery, as physiologic changes occur with increased pressure to anterior structures. While several studies have discussed postoperative vision loss, much fewer studies with lower levels of evidence have addressed other complications.

Oncologic clearance with preservation of reconstructive options: literature review and the 'delayed reconstruction after pathology evaluation (DRAPE)' technique.

Intraoperative frozen section and Mohs' micrographic surgery (MMS) are two techniques used to ensure oncological clearance without resorting to unnecessarily wide margins that might compromise reconstructive options for definitive wound closure. In addition to some technical issues, these techniques are suboptimal for resection of tumours such as melanoma, where specific tissue margins at histopathology are required to ensure minimal risk of local recurrence. We describe a technique that minimizes the amount of tissue excised and uses definitive paraffin sections interpreted in a pathology laboratory in order to delay reconstruction until after clear oncologic margins are obtained.

Total scalp reconstruction with bilateral anterolateral thigh flaps.

Large scalp defects can require complicated options for reconstruction, often only achieved with free flaps. In some cases, even a single free flap may not suffice. We review the literature for options in the coverage of all reported large scalp defects, and report a unique case in which total scalp reconstruction was required.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The prevalence is 1:250 during early embryogenesis, the live-born prevalence is 1:16 000. The etiology of HPE is extremely heterogeneous and can be teratogenic or genetic.

Complement-associated deposits in the human retina.

Purpose: The purpose of this study was to investigate complement activation and associated inflammatory mechanisms in normal, aged human retina.

Methods: Evidence of complement activation and associated mechanisms was assessed in normal human retina (n = 52) using a panel of antibodies directed against membrane attack complex (C5b-9), microglia (CD11b), amyloid precursor protein (APP), scavenger receptor (CD36), and a phytolectin (RCA-I). Fifty-two eyes, categorized into two age groups, were used.

Rendu-Osler-Weber disease: update of medical and dental considerations.

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant inherited disorder characterized by an aberrant vascular development. The reported prevalence is approximately 1 per 5,000-10,000. The clinical manifestations consist of recurrent spontaneous nosebleeds, telangiectasias characteristically at the lips, oral cavity, fingers, and nose, and visceral arteriovenous malformations.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far. The relative contributions of AHI1 mutations and NPHP1 deletions have not yet been determined in a population-based JBS patient cohort.

[A Dutch family with the hereditary periodic fever or tumour necrosis factor receptor-associated periodic syndrome (TRAPS)].

A 9-month-old girl was referred to the paediatrician because of fever of unknown origin. Since the age of 4 years she had recurrent attacks of muscle, joint and abdominal pain, in addition to periodic fever. Her sister and her mother had similar symptoms.

First case of ataxia with isolated vitamin E deficiency in the Netherlands.

We present a 36-year-old Dutch woman who suffered from a progressive form of cerebellar ataxia since school age. In her childhood she was diagnosed with Friedreich's ataxia. Genetic analysis of the frataxin gene at 34 years of age, however, had revealed no abnormal GAA triplet expansion.

Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.

We report on a 46-year-old mother of Moroccan origin, suffering mainly from painful, swollen legs, and her 26-year-old son who had experienced intense pain in his legs, without fever, for approximately 3 years. They did not have dysmorphic features or abnormal gaits. Radiographic studies of the mother revealed diaphyseal sclerosis of the tibia and spondylosis of the thoracal and lumbar vertebrae.

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Gain-of-function mutations in LRP5 have been shown to cause high BMD disorders showing variable expression of some clinical symptoms, including torus palatinus and neurological complications. In an extended family, we were able to add craniosynostosis and developmental delay to the clinical spectrum associated with LRP5 mutations. We report on an extended four-generation family with 13 affected individuals (7 men and 6 women) in which an autosomal dominant type of osteosclerosis segregates.

Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.

A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type.

Masculine Gender Role Stress: a potential predictor of phobic and obsessive-compulsive behaviour.

Eisler and Blalock (Clin. Psychol. Rev.

Cross-cultural validity of the Yale-Brown Obsessive Compulsive Scale.

Some psychometric properties of an adaptation of the Yale-Brown Obsessive Compulsive Scale for use in the Netherlands (Y-BOCS-NL) were examined in 65 psychiatric inpatients. The factorial invariance of two-dimensional systems were determined, namely Severity and Disturbance versus Obsessions and Compulsions, with the latter performing substantially better than the former in different respects. All further analyses were therefore focused on the Obsessions and Compulsions prototype.

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder. Clinical care is complicated by variable age at onset and severity of hematologic symptoms. Recent advances in the molecular biology of FA have allowed us to investigate the relationship between FA genotype and the nature and severity of the clinical phenotype.

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), which accounts for 60-65% of all cases, has been cloned, and is composed of an open reading frame of 4.3 kb, which is distributed among 43 exons.

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.

Approximately 25% of patients with Fanconi anemia (FA) have evidence of spontaneously occurring mosaicism as manifest by the presence of two subpopulations of lymphocytes, one of which is hypersensitive to cross-linking agents (e.g. mitomycin C) while the other behaves normally in response to these agents.

An atypical case of Fanconi anemia in elderly sibs.

We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, short stature, congenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy were absent. The diagnosis was confirmed by demonstrating hypersensitivity of her lymphocytes to mitomycin C (MMC).

Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis.

We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation in the FAC gene.

Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.

We report on a two-year-old boy with Kabuk syndrome and a normal male karyotype whose mother is a low grade mosaic 45,X/46,XX. We hypothesized that the son's Kabuki syndrome might have been caused by gonosomal uniparental (paternal) disomy DNA analysis proved this hypothesis to be incorrect. A review of twelve patients with Kabuki syndrome or Kabuki-syndrome-like features and chromosome abnormalities is presented.