Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmor...Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.展开更多
<strong>Introduction:</strong> Conjunctival-corneal or choroidal calcifications are frequent in SHPT, blindness is however exceptional. We report a case of blindness secondary to compressive ischemic optic...<strong>Introduction:</strong> Conjunctival-corneal or choroidal calcifications are frequent in SHPT, blindness is however exceptional. We report a case of blindness secondary to compressive ischemic optic neuropathy. <strong>Case Report:</strong> Mr. B.E.K., 49 years old, has a chronic renal failure secondary to unlabeled glomerular nephropathy for 17 years. He has been on chronic hemodialysis for 12 years and has had SHPT for nine years. He secondarily developed disabling segmental osteoarticular deformities associated with kyphoscoliosis, “drumstick” fingers and facial dysmorphism. Five months before admission he developed eye pain and reduced visual acuity progressing within one month to blindness. Biology noted: serum creatinine at 726 umol/l (60 - 120 umol/L), azotemia at 14.3 mmol/l (2.5 - 7.5 mmol/L), serum calcium at 2.25 (2.25 - 2.55 mmol/L), phosphatemia at 1.13 (0.8 - 1.35 mmol/L), alkaline phosphatases at 2196 (5 - 270 IU/L) and parathyroid hormone level at 2257 (10 - 60 pg/mL). Retinal angiography revealed lesions suggestive of ischemic neuropathy. The orbit CT scan with 3D coronal reconstruction revealed narrowing of the caliber of the optical channels with dystrophic thickening of the skull base and cranial vault. Cranioencephalic and orbital MRI revealed diffuse brown tumors and pre-chiasmatic optic atrophy. <strong>Discussion:</strong> The most frequent ocular complications of SHPT are conjunctival-corneal or sclero-choroidal calcifications, asymptomatic, associated with hypercalcemia. Compressive manifestations are rarer, represented mainly by an amputation of the visual field, diplopia, ptosis or blindness, as described in our patient. The main cause is osteodystrophy and brown tumors of the skull base (1% - 2%). <strong>Conclusion:</strong> This case report underlines the importance of early detection of SHPT, in order to avoid its major complications, such as blindness, especially since current preventive and curative measures have proven their effectiveness.展开更多
Objective: To identify the impact of an abnormally large neonatal chest circumference relative to head circumference on labor and neonatal morbidity. Methods: We used a retrospective cohort design to study 54 obstetri...Objective: To identify the impact of an abnormally large neonatal chest circumference relative to head circumference on labor and neonatal morbidity. Methods: We used a retrospective cohort design to study 54 obstetric cases in which the neonatal thoracic circumference was ≥2.5 cm greater than that of the head. For each case we sought controls with a smaller thorax-head circumference difference. Ninety-seven controls were matched with their respective cases for birth weight, parity, maternal body mass index (BMI), and maternal ethnicity. Results: Cases had significantly smaller heads and larger trunks than controls (P < 0.0001). Cases were twice as likely (39% vs 19%, P = 0.007) to require admission to the neonatal intensive care unit. There was no significant difference between cases and controls in the frequency of shoulder dystocia, long second stage, or long deceleration phase of labor. However, compound presentations occurred more frequently in the cases than in controls (5.5% vs 0%, P = 0.044). Conclusion: Babies with disproportionately large trunk growth were at risk for requiring neonatal intensive care and for compound presentation.展开更多
BACKGROUND Traumatic amputation of the penis is a rare surgical emergency,usually caused by self-mutilation,accidents,circumcision,assault and animal attacks.This study aimed to summarize our treatment experience invo...BACKGROUND Traumatic amputation of the penis is a rare surgical emergency,usually caused by self-mutilation,accidents,circumcision,assault and animal attacks.This study aimed to summarize our treatment experience involving penile reconstruction in a rare case of a self-strangulation induced chronical penile partial amputation.CASE SUMMARY A 22-year-old man presented with self-strangulation induced chronical penile partial amputation for 3 mo where the penile proximal part was 1 cm far from the pubis.Reconstruction methods included end-to-end anastomosis of the urethral mucosa,proximal anastomosis of the corpus cavernosum and tunica albuginea of the penis,anastomosis of the deep dorsal vein,dorsal artery,and superficial dorsal vein.Patient urinated smoothly after the catheter was removed on day 21.3 mo after the surgery,the patient's penile preliminary cosmetic appearance was satisfactory,with occasional morning erections.Distal penile sensation was preserved,yet erection hardness of the distal penis was not satisfactory.CONCLUSION Complete preoperative assessment and prompt surgical intervention decreases loss of residual penile functions.展开更多
Background and Objectives: Recent studies explored the relationships between metacognitive beliefs and body dysmorphic disorder. The purpose of this study was to develop and validate one self-report scale of metacogni...Background and Objectives: Recent studies explored the relationships between metacognitive beliefs and body dysmorphic disorder. The purpose of this study was to develop and validate one self-report scale of metacognitive factor about body dysmorphic. Methods: Development of this scale involved three steps: 1) items generated from a qualitative study with lecture and care professionals, 2) expert panel review, and 3) pilot test. A factor analysis of the responses from 600 participants suggested the creation of a 25-item scale. Results: Study showed that scores on the 25-item measure correlated with five theoretically related constructs, including positive and negative metacognitive beliefs about body dysmorphic, thought-fusion and metacognitive control strategies. Convergent validity of Body Dysmorphic Metacognitive Scale (BDMCS) with Yale-Brown Obsessive Compulsive Scale was modified for Body Dysmorphic Disorder (BDD) and Thought Fusion Instrument (r = 0.44, r = 0.52,展开更多
Aim of this study is to assess the reliability, validity and psychometric properties of the Greek language version of the Dysmorphic Concern Questionnaire (DCQ). <strong>Method: </strong>The Greek language...Aim of this study is to assess the reliability, validity and psychometric properties of the Greek language version of the Dysmorphic Concern Questionnaire (DCQ). <strong>Method: </strong>The Greek language version of the DCQ scale was presented to 88 healthy individuals (57 women and 31 men) and 32 subjects suffering from body dysmorphic disorder BDD (20 women and 12 men) matched for age and sex. All the BDD group subjects and 57 subjects from the healthy individual group were also assessed according to the following psychometric scales: Symptom Checklist-90-R (SCL-90) scale, Eysenck Personality Questionnaire (EPQ), State-Trait Anxiety Inventory (STAI 1 and STAI-2) and the Zung Self-Rating Depression scales. <strong>Results:</strong> Regarding the DCQ scale, the analysis revealed that one single factor was extracted that accounted for 71.4% of the total variance. Cronbach’s alpha was 0.933, indicating a high level of internal consistency. Comparison between groups, healthy individuals vs BDD patients, showed statistically significant differences in almost every item of the SCL-90 scale (p < 0.05). The Spearman correlations of DCQ score, the DCQ factor score and DCQ T factor with SCL-90, EPQ, as well as the ZUNG depressive scales present high correlation with most items of SCL-90 and ZUNG and STAI-2 (p < 0.005). <strong>Conclusion:</strong> The Greek version of the Dysmorphic Concern Questionnaire (DCQ) is a valid and reliable instrument, appropriate for both research and clinical settings where dysmorphic concern or body image is a variable which needs to be measured or screened for.展开更多
Haematuria was known as a benign hallmark of some glomerular diseases, but over the last decade, new evidences pointed its negative implications on kidneydisease progression. Cytotoxic effects of oxidative stress indu...Haematuria was known as a benign hallmark of some glomerular diseases, but over the last decade, new evidences pointed its negative implications on kidneydisease progression. Cytotoxic effects of oxidative stress induced by hemoglobin, heme, or iron released from red blood cells may account for the tubular injury observed in human biopsy specimens. However, the precise mechanisms responsible for haematuria remain unclear. The presence of red blood cells （RBCs） with irregular contours and shape in the urine indicates RBCs egression from the glomerular capillary into the urinary space. Therefore glomerular haematuria may be a marker of glomerular filtration barrier dysfunction or damage. In this review we describe some key issues regarding epidemiology and pathogenesis of haematuric diseases as well as their renal morphological fndings.展开更多
The purpose of this study was to develop and validate a metacognitive-cognitive-behavioral model for body dysmorphic disorder. A sample of 800 participants (400 males and 400 females) was selected randomly and questio...The purpose of this study was to develop and validate a metacognitive-cognitive-behavioral model for body dysmorphic disorder. A sample of 800 participants (400 males and 400 females) was selected randomly and questionnaires were administered to them. Structure analysis was used to test the factor structure validity of the metacognitive-cognitive-behavioral model for body dysmorphic disorder. Results of the structure analysis revealed and supported a metacognitive-cognitive-behavioral model for body dysmorphic disorder. Also, the results showed that the model had the best fit to the data and was closely related to the theoretical assumptions. The model presented in this study illustrates a multidimensional approach that the model focuses on the metacognitive-cognitive-behavioral dimensions;hence, the model presented in this study is a new explanatory model. The model may prompt future research into body dysmorphic disorder and facilitate clinical treatment and case formulation.展开更多
Naevus dysmorphia is a form of appearance concern/body image dissatisfaction, which describes a preoccupation withthe appearance of a clinically small melanocytic naevus. The naevus is perceived by the patient to be d...Naevus dysmorphia is a form of appearance concern/body image dissatisfaction, which describes a preoccupation withthe appearance of a clinically small melanocytic naevus. The naevus is perceived by the patient to be disfiguring. Such perception leads to maladaptive behaviours and is often associated with low mood, as well as high levels of anxiety and social avoidance. Affected individuals form a diverse group. However, what they have in common is that the distress experienced is disproportionate to the objective visual appearance of the mole. There is a range of severity of the impact on the individual's well being. Naevus dysmorphia may or may not be a cutaneous manifestation of body dysmorphic disorder(BDD). It is essential that patients with naevus dysmorphia are identified and distinguished from patients requesting removal of a mole for other uncomplicated cosmetic reason. Patients with naevus dysmorphia can be challenging to treat and communicate with. Surgical excision of the naevus will not address the underlying psychopathology and so it may not result in long-term positive outcome. Ideally, a detailed psychological assessment and formulation can be made potential y followed by psychological therapy tailored to the needs of the individual. A therapeutic trial of appropriate psychopharmacological course may be indicated in certain cases, e.g., when symptoms of a depressive disorder, anxiety disorder or BDD are present. A case series of 10 patients with naevus dysmorphia is presented, in order to highlight the above issues.展开更多
文摘Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.
文摘<strong>Introduction:</strong> Conjunctival-corneal or choroidal calcifications are frequent in SHPT, blindness is however exceptional. We report a case of blindness secondary to compressive ischemic optic neuropathy. <strong>Case Report:</strong> Mr. B.E.K., 49 years old, has a chronic renal failure secondary to unlabeled glomerular nephropathy for 17 years. He has been on chronic hemodialysis for 12 years and has had SHPT for nine years. He secondarily developed disabling segmental osteoarticular deformities associated with kyphoscoliosis, “drumstick” fingers and facial dysmorphism. Five months before admission he developed eye pain and reduced visual acuity progressing within one month to blindness. Biology noted: serum creatinine at 726 umol/l (60 - 120 umol/L), azotemia at 14.3 mmol/l (2.5 - 7.5 mmol/L), serum calcium at 2.25 (2.25 - 2.55 mmol/L), phosphatemia at 1.13 (0.8 - 1.35 mmol/L), alkaline phosphatases at 2196 (5 - 270 IU/L) and parathyroid hormone level at 2257 (10 - 60 pg/mL). Retinal angiography revealed lesions suggestive of ischemic neuropathy. The orbit CT scan with 3D coronal reconstruction revealed narrowing of the caliber of the optical channels with dystrophic thickening of the skull base and cranial vault. Cranioencephalic and orbital MRI revealed diffuse brown tumors and pre-chiasmatic optic atrophy. <strong>Discussion:</strong> The most frequent ocular complications of SHPT are conjunctival-corneal or sclero-choroidal calcifications, asymptomatic, associated with hypercalcemia. Compressive manifestations are rarer, represented mainly by an amputation of the visual field, diplopia, ptosis or blindness, as described in our patient. The main cause is osteodystrophy and brown tumors of the skull base (1% - 2%). <strong>Conclusion:</strong> This case report underlines the importance of early detection of SHPT, in order to avoid its major complications, such as blindness, especially since current preventive and curative measures have proven their effectiveness.
文摘Objective: To identify the impact of an abnormally large neonatal chest circumference relative to head circumference on labor and neonatal morbidity. Methods: We used a retrospective cohort design to study 54 obstetric cases in which the neonatal thoracic circumference was ≥2.5 cm greater than that of the head. For each case we sought controls with a smaller thorax-head circumference difference. Ninety-seven controls were matched with their respective cases for birth weight, parity, maternal body mass index (BMI), and maternal ethnicity. Results: Cases had significantly smaller heads and larger trunks than controls (P < 0.0001). Cases were twice as likely (39% vs 19%, P = 0.007) to require admission to the neonatal intensive care unit. There was no significant difference between cases and controls in the frequency of shoulder dystocia, long second stage, or long deceleration phase of labor. However, compound presentations occurred more frequently in the cases than in controls (5.5% vs 0%, P = 0.044). Conclusion: Babies with disproportionately large trunk growth were at risk for requiring neonatal intensive care and for compound presentation.
基金Natural Science Foundation of the Xinjiang Uygur Autonomous Region from The First Affiliated Hospital of Xinjiang Medical University,No.2022D01C782.
文摘BACKGROUND Traumatic amputation of the penis is a rare surgical emergency,usually caused by self-mutilation,accidents,circumcision,assault and animal attacks.This study aimed to summarize our treatment experience involving penile reconstruction in a rare case of a self-strangulation induced chronical penile partial amputation.CASE SUMMARY A 22-year-old man presented with self-strangulation induced chronical penile partial amputation for 3 mo where the penile proximal part was 1 cm far from the pubis.Reconstruction methods included end-to-end anastomosis of the urethral mucosa,proximal anastomosis of the corpus cavernosum and tunica albuginea of the penis,anastomosis of the deep dorsal vein,dorsal artery,and superficial dorsal vein.Patient urinated smoothly after the catheter was removed on day 21.3 mo after the surgery,the patient's penile preliminary cosmetic appearance was satisfactory,with occasional morning erections.Distal penile sensation was preserved,yet erection hardness of the distal penis was not satisfactory.CONCLUSION Complete preoperative assessment and prompt surgical intervention decreases loss of residual penile functions.
文摘Background and Objectives: Recent studies explored the relationships between metacognitive beliefs and body dysmorphic disorder. The purpose of this study was to develop and validate one self-report scale of metacognitive factor about body dysmorphic. Methods: Development of this scale involved three steps: 1) items generated from a qualitative study with lecture and care professionals, 2) expert panel review, and 3) pilot test. A factor analysis of the responses from 600 participants suggested the creation of a 25-item scale. Results: Study showed that scores on the 25-item measure correlated with five theoretically related constructs, including positive and negative metacognitive beliefs about body dysmorphic, thought-fusion and metacognitive control strategies. Convergent validity of Body Dysmorphic Metacognitive Scale (BDMCS) with Yale-Brown Obsessive Compulsive Scale was modified for Body Dysmorphic Disorder (BDD) and Thought Fusion Instrument (r = 0.44, r = 0.52,
文摘Aim of this study is to assess the reliability, validity and psychometric properties of the Greek language version of the Dysmorphic Concern Questionnaire (DCQ). <strong>Method: </strong>The Greek language version of the DCQ scale was presented to 88 healthy individuals (57 women and 31 men) and 32 subjects suffering from body dysmorphic disorder BDD (20 women and 12 men) matched for age and sex. All the BDD group subjects and 57 subjects from the healthy individual group were also assessed according to the following psychometric scales: Symptom Checklist-90-R (SCL-90) scale, Eysenck Personality Questionnaire (EPQ), State-Trait Anxiety Inventory (STAI 1 and STAI-2) and the Zung Self-Rating Depression scales. <strong>Results:</strong> Regarding the DCQ scale, the analysis revealed that one single factor was extracted that accounted for 71.4% of the total variance. Cronbach’s alpha was 0.933, indicating a high level of internal consistency. Comparison between groups, healthy individuals vs BDD patients, showed statistically significant differences in almost every item of the SCL-90 scale (p < 0.05). The Spearman correlations of DCQ score, the DCQ factor score and DCQ T factor with SCL-90, EPQ, as well as the ZUNG depressive scales present high correlation with most items of SCL-90 and ZUNG and STAI-2 (p < 0.005). <strong>Conclusion:</strong> The Greek version of the Dysmorphic Concern Questionnaire (DCQ) is a valid and reliable instrument, appropriate for both research and clinical settings where dysmorphic concern or body image is a variable which needs to be measured or screened for.
基金Supported by Grants from FIS (Programa Miguel Servet:CP10/00479,PI13/00802 and PI14/00883)Spanish Society of Nephrology to Moreno JAInstitute of Research Queen Sophia,FRIAT and ISCIII fund PI10/00072 to Egido J.
文摘Haematuria was known as a benign hallmark of some glomerular diseases, but over the last decade, new evidences pointed its negative implications on kidneydisease progression. Cytotoxic effects of oxidative stress induced by hemoglobin, heme, or iron released from red blood cells may account for the tubular injury observed in human biopsy specimens. However, the precise mechanisms responsible for haematuria remain unclear. The presence of red blood cells （RBCs） with irregular contours and shape in the urine indicates RBCs egression from the glomerular capillary into the urinary space. Therefore glomerular haematuria may be a marker of glomerular filtration barrier dysfunction or damage. In this review we describe some key issues regarding epidemiology and pathogenesis of haematuric diseases as well as their renal morphological fndings.
文摘The purpose of this study was to develop and validate a metacognitive-cognitive-behavioral model for body dysmorphic disorder. A sample of 800 participants (400 males and 400 females) was selected randomly and questionnaires were administered to them. Structure analysis was used to test the factor structure validity of the metacognitive-cognitive-behavioral model for body dysmorphic disorder. Results of the structure analysis revealed and supported a metacognitive-cognitive-behavioral model for body dysmorphic disorder. Also, the results showed that the model had the best fit to the data and was closely related to the theoretical assumptions. The model presented in this study illustrates a multidimensional approach that the model focuses on the metacognitive-cognitive-behavioral dimensions;hence, the model presented in this study is a new explanatory model. The model may prompt future research into body dysmorphic disorder and facilitate clinical treatment and case formulation.
文摘Naevus dysmorphia is a form of appearance concern/body image dissatisfaction, which describes a preoccupation withthe appearance of a clinically small melanocytic naevus. The naevus is perceived by the patient to be disfiguring. Such perception leads to maladaptive behaviours and is often associated with low mood, as well as high levels of anxiety and social avoidance. Affected individuals form a diverse group. However, what they have in common is that the distress experienced is disproportionate to the objective visual appearance of the mole. There is a range of severity of the impact on the individual's well being. Naevus dysmorphia may or may not be a cutaneous manifestation of body dysmorphic disorder(BDD). It is essential that patients with naevus dysmorphia are identified and distinguished from patients requesting removal of a mole for other uncomplicated cosmetic reason. Patients with naevus dysmorphia can be challenging to treat and communicate with. Surgical excision of the naevus will not address the underlying psychopathology and so it may not result in long-term positive outcome. Ideally, a detailed psychological assessment and formulation can be made potential y followed by psychological therapy tailored to the needs of the individual. A therapeutic trial of appropriate psychopharmacological course may be indicated in certain cases, e.g., when symptoms of a depressive disorder, anxiety disorder or BDD are present. A case series of 10 patients with naevus dysmorphia is presented, in order to highlight the above issues.
