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PubMed2006

Preferential aggregation of obsessive-compulsive spectrum disorders in schizophrenia patients with obsessive-compulsive disorder.

OBJECTIVE: To validate a complex association between schizophrenia and obsessive-compulsive disorder (OCD). METHOD: We used the Structured Clinical Interview for DSM-IV Axis I disorders to compare the rate of OCD spectrum and additional Axis I disorders in 100 patients who met criteria for both schizophrenia and OCD, non-OCD schizophrenia (n = 100), and OCD (n = 35). RESULTS: There was a robust between-group difference in the number of patients with one or more OCD spectrum disorders (schizo-obsessive n = 30, compared with schizophrenia n = 8; P = 0.001), that is, higher rates of body dysmorphic (8% compared with 0%) and tic (16% compared with 4%) disorders. No difference was revealed in affective, anxiety, and substance use disorders. We found comparable rates of OCD spectrum disorders in the schizo-obsessive and OCD groups (30% and 42.8%, respectively; P = 0.32). CONCLUSION: Preferential aggregation of OCD spectrum disorders in the schizo-obsessive group supports this unique clinical association. Whether a schizo-obsessive interface represents comorbidity or a specific subtype of schizophrenia warrants further investigation.

Adult↗
PubMed2006

Risk-reducing mastectomy.

Breast cancer is a malignant proliferation of epithelial cells lining the ducts or lobules of the breast. Excluding skin cancer, breast cancer is the most common cancer in women. Only lung cancer accounts for more cancer deaths in women. Breast cancer may exist for a long period either as an invasive or noninvasive disease, but not as a nonmetastatic disease. Consequently, timely diagnosis and appropriate management are lifesaving. Approximately 10% of human breast cancers are linked to germline mutations, such BRCA1 and BRCA2. Correct staging of breast cancer patients is critical. It permits an accurate diagnosis, as well as in many cases, therapeutic decisions based largely on the TNM classification. Staging provides the most important prognostic variable. Second opinions of the staging of breast cancer by pathologic examination of the tissue is recommended. There are some variables in which the association with disease-free survival and overall survival seem clear and include estrogen and progesterone receptor cells, S-phase analysis using flow cytometry, histologic classification, molecular changes in the tumor as well as neovasculature semi-quantitative scoring systems. There are four objectives to risk-reducing mastectomy. First, risk-reducing mastectomy should reduce the incidence of breast cancer in high-risk women, for example, BRCA1 or BRCA2 carriers. It should reduce mortality from breast cancer in high-risk women. Moreover, it should have psychological benefits in relieving anxiety about developing breast cancer. Finally, there must be a balance in the reduction in risk against cosmetic outcome, with subsequent quality of life issues. Women should be offered risk reduction mastectomy only on the basis of a strict selection and management plan, like that used in Manchester protocol. This protocol involves a minimum of two sessions with a geneticist/oncologist, a session with a psychiatrist and two sessions with a plastic and reconstructive surgeon with the support of a breast care nurse. The surgical technique should aim at removing substantially all at-risk breast tissue. However, there is an obvious balance between reduction of cancer risk and cosmetic outcome. The surgical technique involves several operations to include the risk-reducing mastectomy as well as breast reconstructive procedures. Skin-sparing mastectomy represents a new surgical approach that allows a mastectomy, whereas preserving the natural skin envelope of the breast. Breast reconstruction will involve several operations, especially if the nipple areola complex is resected and is subsequently reconstructed. The contraindications to risk-reducing mastectomy include the following. The status of the family history or Munchausen's syndrome has not been confirmed. The risk-reducing mastectomy is not the women's own choice. The patient has a current psychiatric disorder including clinical depression, cancer phobia or body dysmorphic syndrome. If the co-morbidity outweighs the clinical benefits, surgery should not be undertaken. Finally, the patient must not have unrealistic expectations of the benefits of surgery. She must understand the subsequent risk-reducing mastectomy may significantly reduce, but not eliminate the risk of subsequent breast cancer.

Breast Neoplasms↗
PubMed2003

Molecular diagnosis of dysmorphic syndromes and inherited metabolic disorders in Thailand.

While dysmorphic syndromes and inherited metabolic disorders are individually rare, they collectively account for a significant proportion of illnesses, especially in children. They present clinically in a wide variety of ways, involving virtually any organ or tissue of the body making them relatively difficult to diagnose. However, reaching an accurate diagnosis for children with dysmorphic features and suspected inherited metabolic disorders is important to them and their families both for treatment and for the prevention of disease in other family members. It also makes all the accumulated knowledge available about the relevant condition. Molecular techniques have kindled a revolution in the diagnosis of genetic disorders, including dysmorphic syndromes and inherited metabolic disorders. Molecular methods essentially avoid problems of other techniques. This review exemplifies some of the diseases that can be diagnosed by molecular tools available in Thailand and illustrates some of their benefits.

Genetic Diseases, Inborn↗
PubMed2005

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. SRS is genetically heterogenous with maternal uniparental disomy with respect to chromosome 7 occurring in approximately 10% of affected individuals. Given the crucial role of the 11p15 imprinted region in the control of fetal growth, we hypothesized that dysregulation of genes at 11p15 might be involved in syndromic intrauterine growth retardation. We identified an epimutation (demethylation) in the telomeric imprinting center region ICR1 of the 11p15 region in several individuals with clinically typical SRS. This epigenetic defect is associated with, and probably responsible for, relaxation of imprinting and biallelic expression of H19 and downregulation of IGF2. These findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS.

CCCTC-Binding Factor↗
PubMed2006

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterised by severe intrauterine and postnatal growth retardation, limb and body asymmetry, a typical facial appearance and less common dysmorphisms. Recently, epimutations and maternal duplications affecting the short arm of chromosome 11 have been shown to have a crucial role in the aetiology of the disease. Disturbances in the same genomic region cause the overgrowth disorder Beckwith-Wiedemann syndrome (BWS). In BWS, mutations in the telomeric as well as in the centromeric imprinting centres (ICR1 and ICR2) in 11p15 can be observed. In SRS, methylation defects in the imprinted region in 11p15 were considered to be restricted to the telomeric ICR1. They can be detected in about 30% of patients. This article reports on the first patient with SRS with a cryptic duplication restricted to the centromeric ICR2 domain in 11p15. The maternally inherited duplication in this patient included a region of 0.76-1 Mbp and affected the genes regulated by the ICR2, among them CDKN1C and LIT1. This study provides evidence for a role for this imprinting centre in the aetiology of SRS and shows that SRS presents a picture genetically opposite to that of BWS.

Abnormalities, Multiple↗
PubMed2004

[Short stature].

In the paper it was identified firstly the short stature, then importance of anamnesis, physical examination, anthropometric measurements and calculated parameters of growth. Then followed the classification of causes for short stature with a specific review on differentiation of normal from pathologic variants. Further in the text it was pointed out the importance of observing normal variants of short stature since between 84% and 87% children are with height under the 3rd percentile. Then followed tables showing pathologic causes of the short stature, and then diagnostic and therapeutic approach to the child with proportionately short stature and short stature associated with dysmorphic features.

Body Height↗
PubMed1996

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance.

We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely mentally retarded in contrast to the usual mild mental retardation in AD-CDMMS. Furthermore he had hypertonia, dysmorphic features and low body weight, which are uncommon in AD-CDMMS. CDMMS is a rare disorder. We traced 18 reports on CDMMS including 10 families, 6 with horizontal transmission and 4 with vertical transmission. There are 8 reports and observations on isolated cases with CDMMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance, with a more severe clinical picture in the former but with quite variable inter- and intrafamilial expression. A review of the literature is given. The existence of autosomal recessive inheritance in families with so-called horizontal transmission is discussed as variable expression, reduced penetrance and germline mosaicism may also explain this condition. Careful (particularly ophthalmologic) examination of first degree relatives is necessary before genetic counseling is given.

Chorioretinitis↗
PubMed2005

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital anomalies, and increased levels of 7-dehydrocholesterol (7-DHC) in body tissues and fluids. SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. In our investigation, we screened 682 dysmorphic/mentally retarded Portuguese patients for abnormal levels of 7-DHC in blood by UV spectrometry. We identified six unrelated patients with SLO (0.87% of total). Mutational analysis of the DHCR7 gene led to the identification of seven distinct mutations, three of which are new (F174S, H301R, and Q98X). The common IVS8-1G > C and T93M variants together with the H301R accounted for 70% of the all SLO alleles in our population. Our findings contribute to the variegate array of pathological changes in the DHCR7 gene among different European populations.

Child↗
PubMed1995

Visual-perceptual disturbances in delusional misidentification.

The delusional misidentification syndromes can involve physical misidentification. Delusional misidentification of the physical make-up of the self shares delusional dysmorphic symptoms with delusional disorder of the somatic type. In this article, we discuss how the study of delusional and perceptual symptoms in delusional misidentification syndromes may lead to a better understanding of the delusional dysmorphic process.

Adult↗
PubMed2005

Clark-Baraitser syndrome: report of a new case and review of the literature.

We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a large 'square' forehead, prominent supraorbital ridges, broad nasal tip, prominent lower lip and minor dental anomalies. We think that our proband is affected by Clark-Baraitser syndrome, a rare X-linked mental retardation disorder, to date described only in five male subjects. We present a more complete definition of the clinical phenotype of the syndrome with particular attention to the behavioural aspect that, in combination with the body size and the dysmorphic picture, we think is distinctive for the Clark-Baraitser syndrome. We also summarize the mild features described in female relatives of the patients, as it could disclose a possible carrier condition and be of help with genetic counselling in the families with male patients, until a molecular test is available.

Abnormalities, Multiple↗
PubMed2006

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.

Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early-onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available.

Adult↗
PubMed2001

Identification of a dominant negative homeodomain mutation in Rieger syndrome.

Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome. Rieger syndrome is an autosomal-dominant human disorder characterized by glaucoma as well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities. PITX2 has also been implicated in the development of multiple organs and left-right asymmetry in the body plan. The PITX2 homeodomain has a lysine at position 50, which has been shown to impart the bicoid-type (TAATCC) DNA binding specificity to other homeodomain proteins. A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic acid. We were intrigued by the relatively pronounced phenotypic consequences of this K88E mutation. In the initial analyses, the mutant protein appeared to simply be inactive, with essentially no DNA binding and transactivation activities and, unlike the wild type protein, with an inability to synergize with another transcription factor, Pit-1. However, when the K88E DNA was cotransfected with wild type PITX2, analogous to the patient genotype, the K88E mutant suppressed the synergism of wild type PITX2 with Pit-1. In contrast, a different PITX2 homeodomain mutant, T68P, which is also defective in DNA binding, transactivation, and Pit-1 synergism activities, did not suppress the wild type synergism with Pit-1. These results describe the first dominant negative missense mutation in a homeodomain and support a model that may partially explain the phenotypic variation within Rieger syndrome.

Abnormalities, Multiple↗
PubMed1991

Craniofacial alterations in adult rats prenatally exposed to ethanol.

The rat was studied to determine whether gestational exposure to moderate amounts of ethanol produces permanent craniofacial malformations. Pregnant Long-Evans rats were fed a liquid diet containing 35% ethanol-derived calories or an isocaloric liquid diet between gestation days 6 and 20. Various dimensions of skulls and mandibles from adult male offspring were measured. All measurements taken in the parasagittal and coronal planes were significantly smaller in the ethanol-exposed rats than in the offspring of pair-fed controls. None of the vertical measurements was significantly altered. This report demonstrates that gestational exposure to ethanol in rats, at doses which produce lasting behavioral effects, also produces a specific constellation of craniofacial dysmorphisms without concomitant decreases in body weight.

Animals↗