scholarly journals The Epidemiology of Moebius Syndrome in Italy

2020 ◽  
Author(s):  
arturo carta ◽  
Stefania Favilla ◽  
Giacomo Calzetti ◽  
Maria Cristina Casalini ◽  
Pier Francesco Ferrari ◽  
...  

Abstract Background: The epidemiology of Moebius Syndrome (MBS) is actually difficult to assess. In the present study we investigated the epidemiology of MBS in a well-defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral Centre for the diagnosis and treatment of MBS. Participants to this cross-sectional study are patients affected by MBS who have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro- areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population available. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: One-hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years, ranging from 0-55; this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients included after 2007. The birth prevalence calculated was 0.06 cases per 10000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any regional difference in the distribution of the cases. Our data confirm on a national basis the rarity of the disease.

2020 ◽  
Author(s):  
arturo carta ◽  
Stefania Favilla ◽  
Giacomo Calzetti ◽  
Maria Cristina Casalini ◽  
Pier Francesco Ferrari ◽  
...  

Abstract Background: The epidemiology of Moebius Syndrome (MBS) is actually difficult to assess. In the present study we investigated the epidemiology of MBS in a well-defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral Centre for the diagnosis and treatment of MBS. Participants to this cross sectional study are patients affected by MBS who have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro- areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population available. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: One-hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years, ranging from 0-55; this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients included after 2007. The birth prevalence calculated was 0.06 cases per 10000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any regional difference in the distribution of the cases. Our data confirm on a national basis the rarity of the disease.


2020 ◽  
Author(s):  
arturo carta ◽  
Stefania Favilla ◽  
Giacomo Calzetti ◽  
Maria Cristina Casalini ◽  
Pier Francesco Ferrari ◽  
...  

Abstract Background: The epidemiology of Moebius Syndrome (MBS) is actually difficult to assess. In the present study we investigated the epidemiology of MBS in a well-defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral Centre for the diagnosis and treatment of MBS. Participants to this cross-sectional study are patients affected by MBS who have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro- areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population available. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: One-hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years, ranging from 0-55; this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients included after 2007. The birth prevalence calculated was 0.06 cases per 10000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any regional difference in the distribution of the cases. Our data confirm on a national basis the rarity of the disease.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Arturo Carta ◽  
Stefania Favilla ◽  
Giacomo Calzetti ◽  
Maria Cristina Casalini ◽  
Pier Francesco Ferrari ◽  
...  

Abstract Background The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area. Materials and methods Our university hospital is the only national referral center for the diagnosis and treatment of MBS. Participants in this cross-sectional study were patients affected by MBS who had been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for study purposes were made available in the AISMO database, updated to April 2018. Subjects were assigned to geographical macroareas that are conventionally used in surveys and epidemiological investigations by the Italian National Institute of Statistics. The rates and prevalence of MBS cases were calculated on the basis of the last available survey of the Italian population. Each study parameter was then calculated with reference to the whole country and macroarea partition. The sex rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective sex population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or sexes. A p value < 0.05 was considered statistically significant. Results One hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases occurred in Caucasian patients and were sporadic. The median age at diagnosis was 3.6 years, ranging from 0 to 55 years; this range was significantly reduced to 0–5 years (median age at diagnosis: 2.2 years) in patients included after 2007. The calculated prevalence at birth was 0.06 cases per 10,000 live births, with an overall prevalence of 0.27/100,000, without any sex or geographical predominance. Conclusions The prevalence of MBS observed herein, rounded for possible underestimation, was 0.3/100,000 people, without any regional difference in the distribution of cases. Our data confirm the rarity of the disease on a national level.


2020 ◽  
Author(s):  
arturo carta ◽  
stefania favilla ◽  
Paolo Mora ◽  
Giacomo Calzetti ◽  
Maria Cristina Casalini ◽  
...  

Abstract Background: The epidemiology of Moebius Syndrome is actually unknown. In the present study we have investigated the epidemiology of MBS in a well defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral centre for the diagnosis and treatment of MBS. Participants to this cross sectional study are patients affected by MBS which have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro-areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population of 2018. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square (c 2 ) analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: 164 out of 212 MBS patients satisfied our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years (range: 0-55); this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients evaluated after 2007. The birth prevalence calculated was 0.06 cases per 10,000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any geographical difference in the distribution of the cases. According to our data, MBS must be considered a rare disease but not so rare as previously postulated by researchers on their personal basis.


2020 ◽  
Vol 5 (2) ◽  
pp. 240-249
Author(s):  
Satrio Wibowo Rahmatullah ◽  
◽  
Ika Maulida Nurrahma ◽  
Adnan Syahrizal

Compliance to achieve treatment success can be improved by providing drug information services (PIO) and counseling to improve understanding of treatment instructions. The general objective of this study was to determine the effect of drug information service and counseling on the level of medication adherence in patients with diabetes mellitus (DM) with hypertension in the Banjarbaru Regional Hospital. This study uses a quasi experimental method with a cross sectional approach and takes patient data prospectively. The results of this study indicate that the group given PIO and counseling showed a high level of adherence as many as 20 respondents (100%). Whereas in the group that was not given PIO and the counseling level of adherence was low, there were 4 respondents (20%). Based on the mann-whitney analysis p-value = 0,000 (<α = 0.05) so that there are differences in the group with PIO and counseling with groups without PIO and counseling, while the chi square analysis p-value = 0.004 (<α = 0 , 05) so that PIO and counseling have a significant effect on the level of adherence to taking medication in patients with DM with hypertension at the Banjarbaru Regional Hospital.


2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Huailiang Wu ◽  
Weiwei Sun ◽  
Hanqing Chen ◽  
Yanxin Wu ◽  
Wenjing Ding ◽  
...  

Abstract Background Pregnant women experience physical, physiological, and mental changes. Health-related quality of life (HRQoL) is a relevant indicator of psychological and physical behaviours, changing over the course of pregnancy. This study aims to assess HRQoL of pregnant women during different stages of pregnancy. Methods This cross-sectional study was performed using the The EuroQoL Group’s five-dimension five-level questionnaire (EQ-5D-5L) to assess the HRQoL of pregnant women, and demographic data were collected. This study was conducted in a regional university hospital in Guangzhou, China. Results A total of 908 pregnant women were included in this study. Pregnant women in the early 2nd trimester had the highest HRQoL. The HRQoL of pregnant women rose from the 1st trimester to the early 2nd trimester, and dropped to the bottom at the late 3rd trimester due to some physical and mental changes. Reports of pain/discomfort problem were the most common (46.0%) while self-care were the least concern. More than 10% of pregnant women in the 1st trimester had health-related problems in at least one dimension of whole five dimensions. In the whole sample, the EuroQoL Group’s visual analog scale (EQ-VAS) was 87.86 ± 9.16. Across the gestational stages, the HRQoL remained stable during the pregnancy but the highest value was observed in the 1st trimester (89.65 ± 10.13) while the lowest was in the late 3rd trimester (87.28 ± 9.13). Conclusions During pregnancy, HRQoL were associated with gestational trimesters in a certain degree. HRQoL was the highest in the early 2nd trimester and then decreased to the lowest in the late 3rd trimester due to a series of physical and psychological changes. Therefore, obstetric doctors and medical institutions should give more attention and care to pregnant women in the late 3rd trimester.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 508.2-509
Author(s):  
K. Maatallah ◽  
H. Boussaa ◽  
H. Riahi ◽  
H. Ferjani ◽  
M. Habechi ◽  
...  

Background:Foot disease is a common problem in rheumatoid arthritis (RA). Therapeutic decisions are often based on clinical examination (CE) alone, which can be adversely affected by factors such as deformity, obesity, and peripheral edema. Ultrasonography (US) has previously been shown to be more sensitive than CE for detecting synovitis and tenosynovitis in RA forefeet, but few data exist for the hindfoot and ankle.Objectives:The aim of this study was to compare CE and US for the detection of hindfoot and ankle synovitis and tenosynovitis in patients with established RA.Methods:We conducted a cross-sectional study including patients with RA (ACR/EULAR 2010). Demographic data and disease parameters were collected. CE was performed by a rheumatologist for the presence or absence of tenderness, swelling, and mobility restriction of both ankles. The following tendons were examined for tenosynovitis: tibialis anterior (TA) and posterior (TP), fibularis longus (FL), and brevis (FB) (assessed together). In a second time, US examination of the tibiotalar, talonavicular, and subtalar joints and the same tendons as CE was performed by a blinded radiologist experienced in musculoskeletal imaging using a Philips HD11 device with a high-frequency linear transducer. The presence or absence of synovitis and tenosynovitis was recorded, and the composite synovitis score (power doppler / grayscale ultrasound (PDUS)) was measured for each joint. The US score of each patient was defined by the sum of the composite scores of the joints studied (0-30). A p-value <0.05 was considered significant.Results:Sixty-two feet were examined in 31 RA patients (25 women and six men) with a mean age of 54.8±10.8 years old [32-70]. The mean disease duration was 8.5±7.2 years [1-37]. Rheumatoid Factor (RF) and Anti-Citrullinated Peptides Antibodies (ACPA) were positive in 61.3% and 83.8% of cases. The mean DAS28 ESR was 3.8±1.5 [0.6-7].Clinical examination of ankles revealed tenderness in 57.4% of cases, swelling in 38.8% of cases, and restriction in the range of motion in 11.1% of cases. TA tenosynovitis was noted in 14.8% of cases, TP tenosynovitis in 22.2% of cases, and FL and FB tenosynovitis in 31.5% of cases.US showed tibiotalar synovitis in 59.3% of cases, talonavicular synovitis in 64.8% of cases, and subtalar synovitis in 46.3% of cases. TA tenosynovitis was noted in 5.6% of cases, TP tenosynovitis in 22.2% of cases, and FB and FL tenosynovitis in 25% and 11.1% of cases respectively.An association was found between clinical tenderness and US synovitis of the tibiotalar joint (p=0.013) and the talonavicular joint (p=0.027). No association was noted between clinical swelling and US synovitis in these joints.No association was noted between clinical and US tenosynovitis of TA (p=0.279), TP (p=0.436), FB (p=0.495) and FL (p=0.315).Conclusion:Clinical examination of RA ankles may be challenging and needs to be coupled with US, which is more sensitive and accurate in the detection of synovitis and tenosynovitis.Disclosure of Interests:None declared


Author(s):  
Silvana Marques e SILVA ◽  
Viviane Fernandes ROSA ◽  
Antônio Carlos Nóbrega dos SANTOS ◽  
Romulo Medeiros de ALMEIDA ◽  
Paulo Gonçalves de OLIVEIRA ◽  
...  

BACKGROUND: Colorectal cancer is a major cause of morbidity and mortality and can arise through the adenoma-carcinoma sequence. Colonoscopy is considered the method of choice for population-wide cancer screening. AIM: To assess the characteristics of endoscopically resected polyps in a consecutive series of patients who underwent colonoscopy at a university hospital and compare histopathology findings according to patient age and polyp size. METHODS: Retrospective, cross-sectional of 1950 colonoscopy reports from consecutively examined patients. The sample was restricted to reports that mentioned colorectal polyps. A chart review was carried out for collection of demographic data and histopathology results. Data were compared for polyps sized ≤0.5 cm and ≥0.6 cm and then for polyps sized ≤1.0 cm and ≥1.1 cm. Finally, all polyps resected from patients aged 49 years or younger were compared with those resected from patients aged 50 years or older. RESULTS: A total of 272 colorectal polyps were resected in 224 of the 1950 colonoscopies included in the sample (11.5%). Polyps >1 cm tended to be pedunculated (p=0.000) and were more likely to exhibit an adenomatous component (p=0.001), a villous component (p=0.000), and dysplasia (p=0.003). These findings held true when the size cutoff was set at 0.5 cm. Patients aged 50 years or older were more likely to have sessile polyps (p=0.023) and polyps located in the proximal colon (p=0.009). There were no significant differences between groups in histopathology or presence of dysplasia. CONCLUSION: Polyp size is associated with presence of adenomas, a villous component, and dysplasia, whereas patient age is more frequently associated with sessile polyps in the proximal colon.


2017 ◽  
Vol 5 (1) ◽  
pp. 109
Author(s):  
Mohamed Gismalla ◽  
Ahmed Abdallah ◽  
Mohammed Alnoor Mohammed ◽  
Sami Mahjoub Taha

Backgrounds: Commonly, doctors migrate for postgraduate study in African and Middle-east countries to western countries. In this study, we would like to know the percentage of graduates who intended to study abroad and determine the factors of their traveling.Material and methods: This is cross-sectional questionnaire survey. Medical students were asked about their future specialty preference, reasons, and site of training. Also, some demographic data were collected. The data was analyzed by SPSS. P value of < 0.05 was considered significant. Result and Discussion: 197 students responded to our survey and filled the questionnaire properly. Participants knew about future specialty from the teacher, the internet, senior college and advice from a family member with rate 83 (42.1%), 42 (22.8%), 41 (21.3%), and 27(13.7%) respectively. One hundred five (53.3%) of the responders preferred to get their specialty training outside Sudan while the remainder 92(46.7%) preferred local training.The commonest specialty selected among both group are medicine and surgery respectively. Obstetrics and gynecology are selected mainly among students who prefer local training 14 out of 15 totally, with statistically significant (p-value = 0.0001). Residency has significant related to the site of training with (P value 0.03). International recognition and advanced facilities are the commonest cause of traveling abroad among the students. While free hands on training and social reasons are the most common causes of home postgraduates training.Conclusion: More than fifty percent of the participant prefers abroad post-graduates training. The factors which influents site training can be defined as "Pull and Push" factors.


2018 ◽  
Vol 08 (02) ◽  
pp. 72-76
Author(s):  
Mahrukh Kamran ◽  
Sahar Mubeen ◽  
Iffat Raza ◽  
Sanobar Bughio ◽  
Hira Waseem ◽  
...  

Objectives: To determine the effect of serum TSH on thyroid dimensions of each lobe and to measure the amount of effect of per unit increase in serum TSH on thyroid dimensions of each lobe in euthyroids. Study Design: It was a cross-sectional study. Setting: The study was conducted at Ziauddin University Hospital, Clifton, Karachi. Methodology: Healthy participants aged 21 years and above were included through convenient sampling. Serum Thyroid stimulating hormone was evaluated and ultrasound of thyroid gland TG of 192 euthyroid participants was performed. Spearman correlation and regression analysis was applied to evaluate the relationship between TSH and TG dimensions Results: Relationship of increase in serum TSH with decrease in light lobe AP dimension was most significant. (r= -0.142 P-Value=0.001) and CC dimension least significant (r= -0.0098 P-Value=0.001). Where as in the left lobe AP dimension decreases significantly with increase serum TSH (r= -0.147 P-value=0.001). 11.7% of total variation in AP dimension, 3.5% of total variation in ML dimension and 6.5% of total variation in CC dimension in right lobe thyroid are because of serum TSH. While 9.5% of the total variation in AP dimension in left lobe is also due to serum TSH. Conclusion: Negative and significant correlation between serum TSH and thyroid dimensions was observed. Serum TSH inversely and significantly affects all the dimensions of the right lobe and only one dimension in the left lobe


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