A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis.

Summary: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, multisystem non-motile ciliopathy of progressive onset. It is primarily characterised by rod-cone dystrophy, early-onset obesity and related complications, postaxial polydactyly, renal and genitourinary abnormalities, learning disabilities, and hypogonadism. The diagnosis is based on Beales' modified diagnostic criteria.

Occurrence of Macular Neovascularization after Retinal Pigment Epithelium-Choroid Translocation Surgery to Treat Complicated Age-Related Macular Degeneration: Incidence, Management, and Outcome.

Introduction: This study investigates the incidence, clinical characteristics, and treatment response of macular neovascularization (MNV) occurring after retinal pigment epithelium (RPE) and choroid graft translocation surgery (RPE-choroid TS).

Methods: Retrospective analysis of 36 eyes of 36 consecutive patients who underwent RPE-choroid TS. Longer term follow-up of graft survival focusing on the occurrence of MNV was performed using multimodal imaging.

Intravitreal Aflibercept Treatment Strategies in Routine Clinical Practice of Neovascular Age-Related Macular Degeneration in Belgium: A Retrospective Observational Study.

Introduction: STELLAR was a Belgian, multicentre, retrospective, observational chart review that described the utilization (number of injections and treatment regimen) and effectiveness of intravitreal aflibercept (IVT-AFL) in patients with anti-vascular endothelial growth factor (VEGF) treatment-naïve neovascular age-related macular degeneration (nAMD) during the first 12 months of IVT-AFL treatment.

Methods: Patients initiating IVT-AFL between July 2013 and July 2017 were included in STELLAR. Primary endpoints were number of visits and IVT-AFL injections, and number of patients who received ≥ 7 versus < 7 IVT-AFL injections during the first 12 months of treatment.

Autologous full-thickness RPE-choroid graft to treat high-risk drusenoid pigment epithelial detachment without CNV.

To report on the survival of a retinal pigment epithelium (RPE)-choroid graft translocated to treat a patient with drusenoid pigment epithelial detachment (DPED). We describe a patient with bilateral high-risk DPED where one eye was treated with RPE-choroid translocation surgery and followed up for more than two years. The RPE-choroid graft surgery was straightforward and the fully perfused graft was able to support stable vision of 0.

OCT angiography documented reperfusion of translocated autologous full thickness RPE-choroid graft for complicated neovascular age-related macular degeneration.

PurposeThe purpose of this study is to investigate the reperfusion of translocated retinal pigment epithelium (RPE)-choroid graft in the treatment of patients with neovascular age-related macular degeneration (nAMD), using OCT angiography (OCTA), a novel non-invasive, high-resolution imaging modality.Patients and methodsEighteen eyes of 18 consecutive patients suffering from complicated nAMD underwent RPE-choroid patch graft translocation surgery using a peripheral retinotomy and flap-over technique. We analyzed functional and anatomical outcome using visual acuity, Spectral Domain OCT and OCTA.

Bilateral talc maculopathy and fibrovascular proliferation in a drug abuser.

Background: Intravenous drug abuse can cause a characteristic crystalline maculopathy. Very rarely, peripheral retinal neovascularization can also be seen in intravenous drug abusers. We present a case of a young cocaine abuser with bilateral crystalline maculopathy and peripheral retinal neovascularization.

Acute and chronic stress increase DHEAS concentrations in rhesus monkeys.

Most studies on the stress-responsiveness of the hypothalamic-pituitary-adrenal (HPA) axis have focused on glucocorticoids, while few studies have investigated the adrenal secretion of dehydroepiandrosterone sulfate (DHEAS), which is unique to primates. Monkeys were chair-restrained for 2h per day for seven consecutive days, and blood samples were collected upon placement in the chair, and at 15, 30, 60 and 120 min later. Like cortisol, DHEAS concentrations increased throughout the initial session of chair restraint (acute stress).

[More cot deaths in child care settings than during the same hours at home: 10-year statistics].

Objective: To determine whether the incidence of sudden infant death syndrome (SIDS) in child care settings (child care centres or child minders) is different from that in the home setting, and to search for any differences in the prevalence of SIDS risk factors in both settings.

Design: Descriptive and comparative.

Method: All SIDS cases (< 2 years), that occurred between September 1996-August 2006 and known to the 'Landelijke Werkgroep Wiegendood' (the National Cot Death Study Group) of the Dutch Paediatric Association were analysed.

[Revised guideline 'prevention of cot death'].

There are new insights into the pathogenesis of cot death ('sudden infant death syndrome'; SIDS). Based on these new insights, the Dutch Paediatric Association and the Dutch Child and Youth Health Care Physicians have drawn up a new guideline 'Prevention of cot death', which replaces the consensus statement of 1996. The 2 major differences from the old guideline are that co-sleeping of young infants in the same bed with the parents is now actively discouraged under the age of 4 months, and that the supine sleeping position is recommended from birth on.

Bed-sharing in the first four months of life: a risk factor for sudden infant death.

Aim: To investigate the risk of sudden infant death in the Netherlands during bed-sharing in the first half year of life and the protective effect of breastfeeding on it.

Methods: During a 10-year period between September 1996 and September 2006 nationwide, 213 cot deaths were investigated.

Results And Discussion: Of 138 cot deaths of less than 6 months of age, 36 (26%) bed-shared.

Two cases of acute macular neuroretinopathy.

Purpose: To report chorioretinal vasoconstriction as a potential pathogenic mechanism in acute macular neuroretinopathy (AMNR). To describe a time lag between the onset of functional deficits and that of fundoscopically visible lesions and illustrate the superior value of infrared (IR) compared to red-free or white light imaging in AMNR.

Methods: Two young female patients (30 and 19 years old) with AMNR are described.

Behavioral and physiological adaptation to repeated chair restraint in rhesus macaques.

Physical restraint is a commonly used procedure when working closely with nonhuman primates. Nonhuman primates show rapid behavioral changes when learning the restraint procedure, and these changes have been taken to reflect behavioral and physiological habituation to the procedure. This study examined the behavioral and adrenocortical responses to repeated physical restraint in a large sample of adult male rhesus monkeys.

Sudden infant death syndrome in child care settings in the Netherlands.

Background: In the Netherlands, there is a very low incidence of sudden infant death syndrome (SIDS) due to effective preventive campaigns.

Methods: During the period September 1996 to August 2002, nationwide 161 deaths from SIDS (about 85% of all cases of SIDS during that time) were investigated by the Cot Death Committee of the Dutch Paediatric Association.

Results And Discussion: Over 10% of cases of SIDS took place during some type of child care.

Overview: Expanding an animal's self-world to include conspecifics.

To further the thinking about animal communication, the authors have returned to J. von Uexküll's (1934/1957) original writings on the Umwelt. Applying J.

Paroxysmal phenomena in the first two years of life.

The prevalence of paroxysmal phenomena in the first two years of life was assessed in 1854 children of Dutch-speaking mothers of a population-based birth cohort. At each visit to the Child Health Clinic (CHC), mothers were asked whether they had noted sudden change of consciousness, involuntary movements, deviation of the eyes or apnoea, and if so, whether these appeared to be related to feeding. Paroxysmal episodes occurred in a quarter of the children: in 8 per cent only in relation to feeding, in 19 per cent also not related to feeding.

Growth in length and weight from birth to 2 years of a representative sample of Netherlands children (born in 1988-89) related to socioeconomic status and other background characteristics.

Of nearly 1900 live-born singletons, born from April 1988 to October 1989 inclusive, nine measurements of length and weight have been taken between the ages of 1 and 24 months. In the first part of the study, differences in attained length and weight at 1 and 2 years of age are analysed according to socioeconomic status (SES). Multiple regression analyses are used to investigate the association of SES and other background characteristics with length and weight.

Coordinate diurnal regulation of hepatic acyl-coenzyme A: cholesterol acyltransferase and cellular levels of esterified cholesterol.

Hepatic ACAT, HMG-CoA reductase and both cellular free and esterified cholesterol were measured at 3 h intervals over a 24 h period in the rat. ACAT exhibited a characteristic low amplitude diurnal rhythm with maximum activity at the mid-light phase that was significantly higher than the minimum activity observed at the mid-dark phase. The cellular esterified cholesterol concentration showed a diurnal rhythm that closely paralleled the rhythm of ACAT activity.

[Use of health care services by children in the first 2 years of life in The Netherlands].

Objective: To assess consumption of medical care for infants and toddlers provided by general practitioners and specialists, and of hospital admissions for young children.

Design: Descriptive.

Setting: Dutch Child Health Clinics (CHC).

Otitis media, respiratory tract infections and hearing loss in pre-term and low birthweight infants.

In 1983, 1338 liveborn infants with a gestational age of less than 32 weeks and/or a birthweight of less than 1500 g, were enrolled in a national follow-up study in The Netherlands. At the age of 5 years, 966 children were alive. Of these, 927 (96%) were assessed on a home visit 2-6 weeks after their fifth birthday by three specially trained paediatricians.

Sex difference in disability and handicap at five years of age in children born at very short gestation.

Objective: The objective of this study was to examine the relationship between sex and disabilities or handicaps at 5 years of age in infants born at less than 32 weeks gestation.

Design: From the nationwide collaborative survey starting in 1983, including perinatal data obtained during routine perinatal care and follow-up assessments by the attending pediatricians, data from 1008 infants fulfilling the criteria were used. At age 5 years, a detailed assessment was performed by three specially trained pediatricians in 96% surviving infants (n = 648), of which 345 were boys.

[The significance of convulsion-like signs in the first 2 years of life].

Objective: Assessment of the prevalence of convulsion-like symptoms in 1854 children of Dutch-speaking mothers of a population-based birth cohort.

Method: At each child health clinic (CHC) visit mothers were asked whether they had noted any of the following signs: loss of consciousness, involuntary movements, eye rotation movements and apnoea, and if so, whether these appeared to be related to feeding. Registration was done by the CHC physician during eight consultations.