Figure 2 - uploaded by Charles Howard
Content may be subject to copyright.
Source publication
A 36 year old patient known to suffer from the Laurence-Moon-Biedl-Bardet syndrome (LMBBS) developed spastic quadriparesis. The typical features of the syndrome, presented by this patient were polydactyly, obesity, hypogonadism, retinitis pigmentosa and relative mental retardation. Severe spinal cervical and lumbar canal stenosis imaged by plain X-...
Similar publications
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutations in POLR1C, a gene encoding a shared POLR1 and...
Citations
... Spinal pathologies, including cervical and thoracic primary spinal canal stenoses, have been infrequently linked to gait disturbances observed in these patients. Nyska et al. 5 described a 36-year-old patient suffering from Laurence-Moon-Biedl-Bardet syndrome, who had significant cervical canal myelopathy and had recovered following cervical laminoplasty. Similar reports of spastic tetraparesis following cervical and thoracic canal stenoses have been made by Moses et al. 6 and Uçar et al. 7 However, no previous description of severe lumbar canal stenosis presenting precipitously as cauda equina syndrome in a patient with BBS has been made in the literature, until date. ...
Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.
... The overlap between Bardet-Biedl syndrome and Laurence-Moon syndrome has been described before [9,10]. We believe that the two clinical entities may represent allelic forms of the same condition and that perhaps the older term, Laurence-Moon-Bardet-Biedl syndrome should be reinstated. ...
... New modified diagnostic criteria for diagnosis of LBS have been proposed according to which four primary or three primary plus two secondary features are required for diagnosing LBS [9,10]. Primary features include rodcone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males, and renal anomalies. ...
Bu çalışmanın amacı; üniversite öğrencilerinin sosyodemografik özelliklerine göre tıpta
yapay zeka ile dijital teknolojiye yönelik düşüncelerini incelemektir. Bu gayeyle
Türkiye’deki vakıf ve devlet üniversitesi öğrencilerine anket tatbik edilmiştir. Araştırmada
kolayda örnekleme metodu kullanılarak 1215 öğrenciye ulaşılmış, fakat verilerin
tamamen ve eksiksiz olduğu 777 anket üzerinden analiz uygulanmıştır. Ankette
değerlendirilen ölçeklerin güvenilirlik çözümlemesi yapılmış ve genel bazda güvenilir
oldukları saptanmıştır (Tıpta Yapay Zeka: Crobnach Alpha=0,492; Dijital Teknolojiye
Yönelik Tutum: Crobnach Alpha=0,896). Gruplar arasındaki farklılıkları kontrol etmek
için tek yönlü varyans analizi (ANOVA) ve T testinden faydalanılmıştır. Üniversite
öğrencilerinin tıpta yapay zeka üzerinde cinsiyet (t=3,574 p<0.005), aile tipi (F=0,479
p<0.005), algılanan aile gelir durumu (F=0,117 p<0.005), anne öğrenim durumu
(F=3,191 p<0.005), baba öğrenim durumu (F=5,090 p<0.005), anne çalışma durumuna
(t=2,267 p<0.005) göre farkın anlamlı derecede olduğu gözlemlenmiştir. Üniversite
öğrencilerinin dijital teknolojiye yönelik araştırmada aile tipi (F=1,433 p<0.005),
kalınan yere (F=4,844 p<0.005) göre farkın anlamlı derecede olduğu gözlemlenmiştir.
Globalleşmenin her geçen senede maksimal düzeyde ehemmiyet arz etmesine bağlı olarak
bireylerin yapay zeka kavramına ve dijital teknolojiye gravite vermesi gerektiği teknoloji
devrinin kaçınılmaz bir neticesidir.
Anahtar Kelimeler: Yapay Zeka, Dijital Teknoloji, Üniversite Öğrencileri, Teknoloji
Laurence-Moon-Biedl-Bardet (LMBB) syndrome is manifested by:
ABSTRACT The certificates of death of 14 deceased patients with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, in which retinal dystrophy is a dominant feature, were reviewed. Death occurred at a considerably younger age than in the general population. Renal disease was noted as primary or contributing cause of death in 7 cases with the diagnoses: cyst of the kidney, renal sclerosis, renal failure, proteinuria, renal disease unspecified and malignant hypertension with renal involvement. It is concluded that renal involvement is characteristic of individuals with LMBB syndrome and seems to reduce life expectancy considerably.
Objective. To identify radiological changes of the hands and feet in a large group of patients with Laurence-Moon-Bardet-Biedl syndrome.
Design. Postero-anterior views of hands and feet were obtained and analysed. Patients. The material consists of 43 Scandinavian patients with the syndrome (24 males and 19 females; age 3 weeks to 57 years, median
23 years at the time of radiological examination). Results and Conclusions. Polydactyly of the hands and feet is one of the main criteria. This was noted clinically in 33 of 43 patients, but all but
3 had been operated on before this radiological study. Remnants of the extirpated finger or toe noted as exostoses, additional
joint surfaces of duplication were found in half the hands and feet, while the remainder showed no radiological changes. Other
features found were short, broad bones and flat joint surfaces of the metacarpophalangeal or metatarsophalangeal joints. We
also found a high frequency of short or long ulna in relation to the radius and Madelung deformity of the wrist in several
patients. Thus, the radiographs showed several non-specific normal variations besides remnants or postoperative changes after
polydactyly.
To improve the description of the ocular part of the Laurence-Moon-Bardet-Biedl syndrome.
We examined 44 Scandinavian individuals who all had retinal dystrophy plus at least 2 more of the traditional cardinal signs of the syndrome: obesity, hypogenitalism, polydactyly and mental retardation.
Full-field electroretinograms were obtained in 36 of the individuals and were abnormal in all. The dark adaptation thresholds were elevated by on average 3.5 log units. Symptoms of night blindness were observed at a mean age of 4 years and visual problems at daytime at 6-7 years. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. In the fundus attenuated vessels were noted at all ages while macular pigmentations and a wax-pale optic disc appeared at age 6-7 years. Pigmentary changes in the midperiphery were noted at the earliest at 13 years of age and appeared mainly as bone spicules, however, in a minority of cases the pigmentations were atypical. Ten of the participants had been followed through a period of 9 years. Their visual acuity was reduced by on average 0.3 line (decimals) and the angle of visual fields by approximate 3 degrees (Goldmann standard object V:4e) per year through the adolescence.
The ocular disease in Laurence-Mood-Bardet-Biedl syndrome presents early, the prognosis for visual function is poor and the fundus features are atypical and varying.
To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome.
The phenotypes of affected siblings in 11 Scandinavian families with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation, were compared [corrected]. Individuals without retinal dystrophy were excluded.
Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome.
Comparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.
Ten patients with Laurence-Moon-Biedl-Bardet syndrome were investigated. They all belonged to one large family within which several intermarriages had taken place. We found that, apart from the already described abnormalities, these patients suffered from dysgenesis of the following epiphyses: vertebrae, proximal femur, proximal tibia, capitellum, tarsal navicular, and the distal epiphysis of the first metatarsal. The degree of polydactyly, a prominent feature of this syndrome, varied from patient to patient, ranging from a wide fifth metatarsal or metacarpal to a complete sixth digit. As in other epiphyseal dysgenesis, a pseudoepiphysis of the distal first metacarpal was present. One patient (the eldest) was tetraparetic due to severe spinal stenosis.
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is late for such a debilitating condition, but the slow development of the clinical features of BBS probably accounts for this. Postaxial polydactyly had been present in 69% of patients at birth, but obesity had only begun to develop at around 2-3 years, and retinal degeneration had not become apparent until a mean age of 8.5 years. Our study identified some novel clinical features, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies. In the light of these features we propose a revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder. We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (polydactyly-obesity-kidney-eye syndrome).
We report an increased prevalence of renal malformations and renal cell carcinoma in the unaffected relatives of BBS patients and suggest that these may be a consequence of heterozygosity for BBS genes. Our findings have important implications for the care of BBS patients and their unaffected relatives.
