An Observational Study to Develop a Predictive Model for Bacterial Pneumonia Diagnosis in Severe COVID-19 Patients-C19-PNEUMOSCORE.

In COVID-19 patients, antibiotics overuse is still an issue. A predictive scoring model for the diagnosis of bacterial pneumonia at intensive care unit (ICU) admission would be a useful stewardship tool. We performed a multicenter observational study including 331 COVID-19 patients requiring invasive mechanical ventilation at ICU admission; 179 patients with bacterial pneumonia; and 152 displaying negative lower-respiratory samplings. A multivariable logistic regression model was built to identify predictors of pulmonary co-infections, and a composite risk score was developed using ß-coefficients. We identified seven variables as predictors of bacterial pneumonia: vaccination status (OR 7.01; 95% CI, 1.73-28.39); chronic kidney disease (OR 3.16; 95% CI, 1.15-8.71); pre-ICU hospital length of stay ≥ 5 days (OR 1.94; 95% CI, 1.11-3.4); neutrophils ≥ 9.41 × 109/L (OR 1.96; 95% CI, 1.16-3.30); procalcitonin ≥ 0.2 ng/mL (OR 5.09; 95% CI, 2.93-8.84); C-reactive protein ≥ 107.6 mg/L (OR 1.99; 95% CI, 1.15-3.46); and Brixia chest X-ray score ≥ 9 (OR 2.03; 95% CI, 1.19-3.45). A predictive score (C19-PNEUMOSCORE), ranging from 0 to 9, was obtained by assigning one point to each variable, except from procalcitonin and vaccine status, which gained two points each. At a cut-off of ≥3, the model exhibited a sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of 84.9%, 55.9%, 69.4%, 75.9%, and 71.6%, respectively. C19-PNEUMOSCORE may be an easy-to-use bedside composite tool for the early identification of severe COVID-19 patients with pulmonary bacterial co-infection at ICU admission. Its implementation may help clinicians to optimize antibiotics administration in this setting.

Chest CT Scan for the Diagnosis of Pediatric Pulmonary TB: Radiological Findings and Its Diagnostic Significance.

Diagnosing active TB in children remains a clinical challenge, due to difficulties in achieving a definite microbiological confirmation, aspecific clinical manifestation, low sensitivity of chest radiography (CXR). For this reason, the use of chest computed tomography (CT) scan to evaluate suspected TB pediatric cases is increasing. We retrospectively reviewed records of patients aged <16 years diagnosed with active TB at the Pediatric Infectious Disease Unit of the Catholic University of the Sacred Heart to describe CT findings and to evaluate the need for its execution for diagnosis. In 41 cases, 7 CXR were normal (17.1%) while no CT scan was evaluated as negative. In 19 cases (46.3%), CXR was considered non-probable TB pulmonary, compared with 11 of 37 cases (29.7%) of CT. In 15 cases (36.6%) CXR was described as probable for TB pulmonary, instead 26 of the 37 cases evaluated by CT (70.3%) were classified as probable TB. We describe CT findings in patients with pediatric TB. We confirmed that CT can improve the diagnostic accuracy. In particular, the comparison between the CT and CXR ability in detecting cases of pulmonary TB in accordance with the proposed radiological probability criteria, showed a superiority of CT in detecting probable TB pictures (70.3%) compared with 36.6% of the x-Ray.

Is extensive cardiopulmonary screening useful in athletes with previous asymptomatic or mild SARS-CoV-2 infection?

OBJECTIVE: During the COVID-19 pandemic, it is essential to understand if and how to screen SARS-CoV-2-positive athletes to safely resume training and competitions. The aim of this study is to understand which investigations are useful in a screening protocol aimed at protecting health but also avoiding inappropriate examinations. METHODS: We conducted a cohort study of a professional soccer team that is based on an extensive screening protocol for resuming training during the COVID-19 pandemic. It included personal history, antigen swabs, blood tests, spirometry, resting/stress-test ECG with oxygen saturation monitoring, echocardiogram, Holter and chest CT. We also compared the findings with prior data from the same subjects before infection and with data from SARS-CoV-2-negative players. RESULTS: None of the players had positive swab and/or anti-SARS-CoV-2 IgM class antibodies. Out of 30 players, 18 (60%) had IgG class antibodies. None had suffered severe SARS-CoV-2-related disease, 12 (66.7%) had complained of mild COVID-19-related symptoms and 6 (33.3%) were asymptomatic. None of the players we examined revealed significant cardiovascular abnormalities after clinical recovery. A mild reduction in spirometry parameters versus pre-COVID-19 values was observed in all athletes, but it was statistically significant (p<0.05) only in SARS-CoV-2-positive athletes. One SARS-CoV-2-positive player showed increased troponin I level, but extensive investigation did not show signs of myocardial damage. CONCLUSION: In this small cohort of athletes with previous asymptomatic/mild SARS-CoV-2 infection, a comprehensive screening protocol including blood tests, spirometry, resting ECG, stress-test ECG with oxygen saturation monitoring and echocardiogram did not identify relevant anomalies. While larger studies are needed, extensive cardiorespiratory and haematological screening in athletes with asymptomatic/mild SARS-CoV-2 infection appears unnecessary.

Italian consensus conference on management of uterine sarcomas on behalf of S.I.G.O. (Societa' italiana di Ginecologia E Ostetricia).

BACKGROUND: Uterine sarcomas are very rare tumours with different histotypes, molecular features and clinical outcomes; therefore, it is difficult to carry out prospective clinical trials, and this often results in heterogeneous management of patients in the clinical practice. AIM: We planned to set up an Italian consensus conference on these diseases in order to provide recommendations on treatments and quality of care in our country. RESULTS: Early-stage uterine sarcomas are managed by hysterectomy + bilateral salpingo-oophorectomy according to menopausal status and histology; lymphadenectomy is not indicated in patients without bulky nodes, and morcellation must be avoided. The postoperative management is represented by observation, even though chemotherapy can be considered in some high-risk patients. In early-stage low-grade endometrial stromal sarcoma and adenosarcomas without sarcomatous overgrowth, hormonal adjuvant treatment can be offered based on hormone receptor expression. In selected cases, external beam radiotherapy ± brachytherapy can be considered to increase local control only. Patients with advanced disease involving the abdomen can be offered primary chemotherapy (or hormonal therapy in the case of low-grade endometrial stromal sarcoma and adenosarcoma without sarcomatous overgrowth), even if potentially resectable in the absence of residual disease in order to test the chemosensitivity (or hormonosensitivity); debulking surgery can be considered in patients with clinical and radiological response. Chemotherapy is based on anthracyclines ± ifosfamide or dacarbazine. Palliative radiotherapy can be offered for symptom control, and stereotactic radiotherapy can be used for up to five isolated metastatic lesions. CONCLUSIONS: Treatment of uterine sarcoma should be centralised at referral centres and managed in a multidisciplinary setting.

Quantitative and semi-quantitative computed tomography analysis of interstitial lung disease associated with systemic sclerosis: A longitudinal evaluation of pulmonary parenchyma and vessels.

OBJECTIVES: To evaluate interstitial lung disease associated with systemic sclerosis (SSc-ILD) and its changes during treatment by using quantitative analysis (QA) compared to semi-quantitative analysis (semiQA) of chest computed tomography (CT) scans. To assess the prognostic value of QA in predicting functional changes. MATERIALS AND METHODS: We retrospectively selected 35 consecutive patients with SSc-ILD with complete pulmonary functional evaluation, Doppler-echocardiography, immunological tests, and chest CT scan at both baseline and follow-up after immunosuppressive therapy. CT images were analyzed by two chest radiologists for semiQA and by a computational platform for texture analysis of ILD patterns (CALIPER) for QA. Concordance between semiQA and QA was tested. Traction bronchiectasis severity was scored. Analysis of ROC curves was performed. RESULTS: Seventy CT scans were analyzed and QA failed in 4/70 scans. Thus, the final population included 31/35 patients (51.3±12.1 years). QA had a weak-to-good concordance with semiQA (ICC reticular:0.275; ICC ground-glass:0.667) and QA correlated better than semiQA (r = -0.3 to -0.74 vs r = -0.3 to -0.4) with functional parameters. Both methods correlated with traction bronchiectases score and pulmonary artery diameter at CT. A pulmonary artery diameter ≥29mm distinguished patients with lower lung volumes and ILD extent greater than 39% (p<0.001). Changes in QA patterns during treatment were not accurate (AUC: 0.50 to 0.70; p>0.05) in predicting disease progression as assessed by functional parameters, whereas variation in total lung volume at QA accurately predicted changes in the composite functional respiratory endpoint with FVC% and DLco% (AUC = 0.74; 95%CI: 0.54 to 0.93; p = 0.03). CONCLUSIONS: Pulmonary QA of CT images can objectively quantify specific patterns of ILD changes during treatment in patients with SSc-ILD. Changes in QA patterns do not correlate with functional changes, but variation in total lung volume at QA accurately predicted changes in the composite functional respiratory endpoint with FVC% and DLco%. Pulmonary artery diameter at CT reflects the interstitial involvement, identifying patients with more severe prognosis.

CT-guided fine-needle ago-biopsy of pulmonary nodules: predictive factors for diagnosis and pneumothorax occurrence.

OBJECTIVE: To evaluate variables that could predict diagnosis during CT-guided fine-needle aspiration. METHODS: Data from 249 patients who underwent FNAB from January 2010 to December 2012 were analyzed in a retrospective observational study. RESULTS: Mean age was 66.7 ± 11.5 years, male/female ratio 158/91 (63 vs. 37 %). The nodules were in right lung in 123 patients (49 %), in left lung in 126 patients (51 %), the upper, lower and middle lobe localizations were, respectively in 122 (49 %), 100 (40 %) and 17 (6 %) patients. Mean nodule-chest wall distance was 63.89 ± 21.38 mm. The tumor location, the needle diameter, the presence of necrosis or cavitation, the node-chest wall distance and the number of passages were not related to the diagnostic outcome (p = NS). The nodule diameter was predictive of diagnosis. Odds ratio for a 10-30 mm tumor was 2.51 (95 % OR: 1.24-5.08, p value = 0.011), the odds ratio for a 30-50 mm tumor was 2.39 (95 % OR: 1.22-4.69, p value = 0.011), and the odds ratio for a tumor larger than 50 mm was 4.44 (95 % OR: 1.89-10.44, p value = 0.001). Post-procedure pneumothorax occurred in 62 cases (25 %). The determinant factors for pneumothorax occurrence were emphysema, odds ratio 6.87 (95 % CI 1.07-44.10, p value = 0.04), and the number of pleural passages, odds ratio of 5.47 (95 % OR: 1.92-15.58), 7.44 (95 % OR: 2.58-21.5), 6.13 (95 % OR: 2.07-18.11) p value = 0.001 for one, two, three or more of three passages, respectively. CONCLUSIONS: In our experience, nodule size is the most important diagnostic factor during fine-needle aspiration, while the number of passages and the presence of emphysema constitute risk factors for pneumothorax occurrence.

Relationship Between Biotype and Bone Morphology in the Lower Anterior Mandible: An Observational Study.

BACKGROUND: Different clinical parameters have been advocated as potential predictors of alveolar and basal jawbone morphology. The aim of this study is to describe, by tomographic means, alveolar and basal osseous dimensions of the anterior mandible in healthy individuals and evaluate potential correlations with biotype, along with other clinical parameters. METHODS: One hundred consecutive healthy patients needing surgery in the posterior mandible were enrolled in this observational study (group 1 = 50 patients with thin biotype; group 2 = 50 patients with thick biotype). Data were collected for: 1) Little irregularity index for anterior crowding; 2) molar and canine class relationship; 3) previous orthodontic treatment; 4) gingival recession; and 5) band of keratinized gingiva for each of the six anterior mandibular teeth (#22 through #27). At the most mid-buccal computerized tomography slice of each tooth, other parameters were measured, including: 1) distance from the cemento-enamel junction to the bone crest; 2) tooth torque (TT); 3) labial cortical bone thickness (BT) for alveolar and basal bone; and 4) BT 5 and 10 mm apical to the tooth apex. Data were statistically analyzed, and significance was set at P ≤0.05. RESULTS: Mean thickness of alveolar bone ranged from 6.66 to 4.51 mm (standard deviation [SD] = 1.46 for tooth #27; SD = 1.01 for tooth #25) whereas mean thickness of basal bone ranged from 8.9 to 8.2 mm (SD = 2.06 for tooth #22; SD = 2.06 for tooth #26). Mean thickness of bone at 5 mm from apex ranged from 11.94 to 10.47 mm (SD = 2.96 for tooth #25; SD = 2.22 for tooth #22), whereas mean thickness of bone at 10 mm from apex ranged from 13.75 to 11.08 mm (SD = 2.79 for tooth #25; SD = 2.53 for tooth #27). No statistically significant differences were detected among biotypes, whereas: 1) TT, 2) age, and 3) smoking habit were often predictors of reduction in BT in a multiple linear regression model. Male sex was often a predictor of positive changes in BT, and previous orthodontic therapy was a protective factor against developing bone loss >5 mm. CONCLUSIONS: Although some differences were detected among biotypes, data indicate that biotype does not play a fundamental role in influencing alveolar BT, whereas other variables (i.e., TT, sex, age, and smoking habit) do influence alveolar BT. Further studies are needed to better understand the extent of influence of each clinical variable.

Under-reporting of cardiovascular findings on chest CT.

PURPOSE: It is unclear whether (and, to what extent) radiologists look at and report cardiovascular abnormalities on non-cardio-synchronized standard chest computed tomography (CT). In this study, the frequency and the reporting rate of cardiovascular findings in chest CT examinations were retrospectively assessed. MATERIALS AND METHODS: This study was approved by the institutional review board of each participating center. Four academic centers provided data on 447 subjects who underwent non-ECG-synchronized chest CT examinations for evaluating pulmonary fibrosis (161/447, 36 %), suspected pulmonary embolism (140/447, 31.3 %), or lung cancer staging (146/447, 32.7 %). A total of 220/447 (53.7 %) and 227/447 CT (46.3 %) examinations were evaluated and reported by junior and senior chest radiologists, respectively. Two radiologists with training in cardiac imaging reviewed the same chest CT images looking for the presence of incidental cardiovascular abnormalities using a preformatted score sheet. Inter-observer agreement was assessed using the kappa coefficient of agreement (k). RESULTS: Inter-observer agreement between the study reviewers was moderate to good (0.4-0.73) for most of the incidental cardiovascular findings. At least one incidental cardiovascular finding not documented in the original report was identified by the study reviewers in 225/409 (55 %) of chest CT examinations. A total of 168/266 (63.2 %) potentially clinically significant cardiovascular findings were unreported in the original reports of 177/447 (39.6 %) subjects (p < 0.0001). Senior radiologists tended to more frequently report coronary artery calcification (p = 0.0006), cardiac valves calcification (p = 0.0003), and ascending aorta enlargement (p = 0.01) compared to junior radiologists. CONCLUSIONS: Several cardiovascular abnormalities can be reliably identified on standard chest CT. Yet, they are often under-reported, even when they might be relevant to the patient's work-up.

Tumour-associated antigens in systemic sclerosis patients with interstitial lung disease: association with lung involvement and cancer risk.

OBJECTIVE: To evaluate the serum levels of tumour-associated antigens (TAAs) in patients with SSc and interstitial lung disease (ILD) and to define whether their levels mirror the severity and the progression of lung damage. METHODS: Data from 80 SSc patients with ILD were collected at baseline and after 2 years as well as from 40 SSc controls without ILD. The occurrence of any malignancy was recorded. RESULTS: At baseline, an increase of at least one TAA was present in 35 SSc patients with ILD compared with 6 SSc patients without ILD (P < 0.0001); this was associated with lower forced vital capacity (FVC) and higher interstitial and alveolar scores. Levels of carbohydrate antigen 15-3 and carcinoembryonic antigen inversely correlated with FVC and directly correlated with alveolar and interstitial scores and their levels were higher in patients who presented a progression of lung damage after 2 years. During 4 years of follow-up, a malignancy was detected in seven patients who already had an increase of at least one TAA. Values of TAAs increased over time in patients who developed cancer, while their trend remained stable in the others. At multivariate analysis, to have three or more TAAs emerged as a strong independent predictor of the development of malignancies [relative risk 24.1 (95% CI 1.8, 315.0), P = 0.02]. CONCLUSION: TAAs can be elevated in the sera of SSc patients and correlate with the degree of lung damage, suggesting a role as severity biomarkers. Close follow-up is necessary in SSc patients because of the increased cancer risk overall in patients with increased TAAs.

Long-term efficacy of B cell depletion therapy on lung and skin involvement in diffuse systemic sclerosis.

OBJECTIVES: To assess the long-term efficacy and safety of single and multiple courses of rituximab therapy in systemic sclerosis (SSc) patients with and without lung disease. METHODS: A total of 20 SSc patients with a diffuse disease were treated with rituximab. At baseline and during follow-up the lung involvement was evaluated with pulmonary function tests (FVC and DLCO) and with lung high-resolution computed tomography (HRCT). RESULTS: The skin score, activity, and severity indices improved significantly after 12 months and at final follow-up compared to baseline. After 12 months, there was a significant increase of FVC and TLC compared to baseline (p = 0.024 and p = 0.005, respectively), while the mean DLCO value remained stable. Considering the last available follow-up in six patients with restrictive lung disease at baseline, two patients (33.3%) experienced an increase of more than 10% of FVC, one patient had a decrease of FVC >10%, while in three patients FVC remained stable (50%). After the mean follow-up of 48.5 ± 20.4 months, among the patients with normal lung parameters at baseline, FVC remained stable in 12 (85.7%) and in one patient (14.3%) it increased by more than 10%. At the final follow-up, the alveolar and interstitial HRCT scores remained stable in more than 80% of patients, both in patients with and without restrictive lung disease at baseline. CONCLUSIONS: Anti-CD20 B cell depletion therapy is effective on skin involvement but seems also to preserve the pulmonary function, as supported by a stable or improved FVC and stable interstitial score, suggesting a possible role of rituximab as a modifying therapy overall in early diffuse SSc.

High-normal TSH values in obesity: is it insulin resistance or adipose tissue's guilt?

OBJECTIVE: Clinical evidences reported subclinical alterations of thyroid function in obesity, although the relationship between thyroid status and obesity remains unclear. We cross-sectionally investigated the influence of metabolic features on hypothalamic-pituitary-thyroid axis in obesity. DESIGN AND METHODS: We enrolled 60 euthyroid subjects with no history of type 2 diabetes mellitus and assessed the relationship of thyroid function with insulin resistance, measured using euglycemic clamp, and abdominal fat volume, quantified by computed tomography scan (CT scan). Thyroid stimulating hormone (TSH) correlated with BMI (r = 0.46; P = 0.02), both visceral (r = 0.58; P = 0.02) and subcutaneous adipose tissue volumes (r = 0.43; P = 0.03) and insulin resistance (inverse relationship with insulin sensitivity-glucose uptake: r = -0.40; P = 0.04). RESULTS: After performing multivariate regression, visceral adipose tissue volume was found to be the most powerful predictor of TSH (ß = 3.05; P = 0.01), whereas glucose uptake, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, subcutaneous adipose tissue volume, and triglycerides were not. To further confirm the hypothesis that high-normal TSH values could be dependent on adipose tissue, and not on insulin resistance, we restricted our analyses to moderately obese subjects' BMI ranging 30-35 kg/m(2). This subgroup was then divided as insulin resistant and insulin sensitive according to the glucose uptake (≤ or >5 mg · kg(-1) · min(-1), respectively). We did not find any statistical difference in TSH (insulin resistant: 1.62 ± 0.65 µU/ml vs. insulin sensitive: 1.46 ± 0.48; P = not significant) and BMI (insulin resistant: 32.2 ± 1.6 kg/m(2) vs. insulin sensitive: 32.4 ± 1.4; P = not significant), thus confirming absence of correlation between thyroid function and insulin sensitivity per se. CONCLUSION: Our study suggests that the increase in visceral adipose tissue is the best predictor of TSH concentration in obesity, independently from the eventual concurrent presence of insulin resistance.

Intra- and interoperator variability of lobar pulmonary volumes and emphysema scores in patients with chronic obstructive pulmonary disease and emphysema: comparison of manual and semi-automated segmentation techniques.

PURPOSE: We aimed to compare the intra- and interoperator variability of lobar volumetry and emphysema scores obtained by semi-automated and manual segmentation techniques in lung emphysema patients. MATERIALS AND METHODS: In two sessions held three months apart, two operators performed lobar volumetry of unenhanced chest computed tomography examinations of 47 consecutive patients with chronic obstructive pulmonary disease and lung emphysema. Both operators used the manual and semi-automated segmentation techniques. The intra- and interoperator variability of the volumes and emphysema scores obtained by semi-automated segmentation was compared with the variability obtained by manual segmentation of the five pulmonary lobes. RESULTS: The intra- and interoperator variability of the lobar volumes decreased when using semi-automated lobe segmentation (coefficients of repeatability for the first operator: right upper lobe, 147 vs. 96.3; right middle lobe, 137.7 vs. 73.4; right lower lobe, 89.2 vs. 42.4; left upper lobe, 262.2 vs. 54.8; and left lower lobe, 260.5 vs. 56.5; coefficients of repeatability for the second operator: right upper lobe, 61.4 vs. 48.1; right middle lobe, 56 vs. 46.4; right lower lobe, 26.9 vs. 16.7; left upper lobe, 61.4 vs. 27; and left lower lobe, 63.6 vs. 27.5; coefficients of reproducibility in the interoperator analysis: right upper lobe, 191.3 vs. 102.9; right middle lobe, 219.8 vs. 126.5; right lower lobe, 122.6 vs. 90.1; left upper lobe, 166.9 vs. 68.7; and left lower lobe, 168.7 vs. 71.6). The coefficients of repeatability and reproducibility of emphysema scores also decreased when using semi-automated segmentation and had ranges that varied depending on the target lobe and selected threshold of emphysema. CONCLUSION: Semi-automated segmentation reduces the intra- and interoperator variability of lobar volumetry and provides a more objective tool than manual technique for quantifying lung volumes and severity of emphysema.

Tuberculosis in sheltered homeless population of Rome: an integrated model of recruitment for risk management.

The authors show the results of an integrated model for risk management of tuberculosis in a sample of sheltered homeless in Rome. Tuberculin skin test (TST) was used for evaluating the prevalence of latent infection (LTBI). In TST positives, expectorate was collected and chest X-ray was achieved. Multiple logistic regression analysis was performed to investigate determinants of infection. Out of 288 recruited subjects, 259 returned for the TST reading; 45.56% were positive and referred to a specialized center; 70 accessed the health facility and completed the clinical pathway. The risk factors associated to LTBI were male gender (OR = 3.72), age over 60 years (OR = 3.59), immigrant status (OR = 3.73), and obesity (OR = 2.19). This approach, based on an integrated social network, guarantees high adherence to screening (89.93%), allowing patients testing positive for latent tuberculosis infection to be diagnosed and rapidly referred to a specialized center.

The thickness of facial alveolar bone overlying healthy maxillary anterior teeth.

BACKGROUND: A facial bone (<2 mm) overlying maxillary anterior teeth may be prone to resorptive processes after extraction and immediate implant placement. A thin bone contributes to risk of bone fenestration, dehiscence, and soft-tissue recession. This study measures the distance between the cemento-enamel junction (CEJ) and alveolar bone crest and the thickness of facial alveolar bone at points 1 to 5 mm from the bone crest for the six maxillary anterior teeth. METHODS: Sixty-six tomographic scans (31 males and 35 females; aged 17 to 69 years; mean age: 39.9 years) of intact anterior maxilla were randomly selected and evaluated by two calibrated and independent examiners (MG and TP). RESULTS: A high variation of CEJ-bone crest (0.8 to 7.2 mm) was detected. A significantly larger CEJ-bone crest was measured in smokers (P <0.05) and patients who were ≥50 years old (P <0.05). The average bone thickness at 3 mm from the CEJ for the maxillary right central incisor was 1.41 mm and for the maxillary left central incisor was 1.45 mm. For the maxillary right and left lateral incisors, the crestal bone thickness averaged 1.73 and 1.59 mm, respectively. For the maxillary right and left canines, the crestal bone thickness averaged 1.47 and 1.60 mm, respectively. CONCLUSIONS: The present study supports the finding of a predominantly thin facial bone overlying the six maxillary anterior teeth. Therefore, it is essential to make informed treatment decisions based on thorough site evaluation before immediate implant placement.

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.

PURPOSES: The purposes of the study are: (1) to establish if cephalometry and upper airway examination may provide tools for detecting facioscapulohumeral (FSHD) patients at risk for obstructive sleep apnea syndrome (OSAS); and (2) to correlate cephalometry and otorhinolaryngologic evaluation with clinical and polysomnographic features of FHSD patients with OSAS. METHODS: Patients were 13 adults affected by genetically confirmed FSHD and OSAS, 11 men, with mean age 47.1 ± 12.8 years (range, 33-72 years). All underwent clinical evaluation, Manual Muscle Test, Clinical Severity Scale for FSHD, Epworth Sleepiness Scale, polysomnography, otorhinolaryngologic evaluation, and cephalometry. RESULTS: Cephalometric evidence of pharyngeal narrowing [posterior airways space (PAS) < 10 mm] was present in only one patient. The mandibular planus and hyoid (MP-H) distance ranged from 6.5 to 33.1 mm (mean, 17.5 ± 7.8 mm). The mean length of soft palate (PNS-P) was 31.9 ± 4.8 mm (range, 22.2 to 39.7 mm). No patient presented an ANB angle > 7°. There was no significant correlation between cephalometric measures, clinical scores, and PSG indexes. PAS and MP-H were not related to the severity of the disease. CONCLUSIONS: Upper airway morphological evaluation is of poor utility in the clinical assessment of FSHD patients and do not allow to predict the occurrence of sleep-related upper airway obstruction. This suggests that the pathogenesis of OSAS in FSHD is dependent on the muscular impairment, rather than to the anatomy of upper airways.

Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7+/-12.3 years (range: 26-72). The diagnosis of FSHD was confirmed by genetic tests. All patients underwent medical and neurological evaluations, subjective evaluation of sleep and full-night laboratory-based polysomnography. Twenty patients presented SDB: 13 presented obstructive apneas, four presented REM related oxygen desaturations and three showed a mixed pattern. Three patients needed positive airways pressure. SDB was not related to the severity of the disease. Body mass index, neck circumference and daytime sleepiness did not allow prediction of SDB. In conclusion, the results suggest a high prevalence of SDB in patients with FSHD. The presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the clinical assessment of FSHD.