Glenoid version: the role of genetic and environmental factors on its variability. An MRI study on asymptomatic elderly twins.

BACKGROUND: Glenoid version is the most variable parameter of the shoulder joint. No authors investigated if intrinsic genetic factors or influences from extrinsic sources are responsible for its variability. AIM: We compared glenoid version between elderly monozygotic and dizygotic twins intending to separate the contributions of genetics from shared and unique environments. METHODS: Glenoid version of the dominant shoulder was assessed by MRI using Friedman's method in 30 pairs of elderly twins (16 monozygotic-14 dizygotic; mean age ± SD: 63.72 ± 3.37, 53-72). Heritability was estimated as twice the difference between the intraclass correlation coefficients for monozygotic and dizygotic pairs. The influence of shared environment was calculated as the difference between monozygotic correlation coefficient and the heritability index. According to job category, one way analysis of variance was used to estimate the differences between groups in the total sample and within zygosity groups. RESULTS: Glenoid version angle in monozygotic and dizygotic twins was -2° (SD: 2°) and -3° (SD: 3°), respectively (p = 0.334). Heritability index was 0.98, while the contributions of shared and unique environment were 0 and 0.02, respectively. According to working classes, no significant differences were found between the groups (p = 0.732, F = 0.31). CONCLUSIONS: Glenoid version is mainly genetically determined and only marginally influenced by environments.Level of evidence: III.

Shoulder adhesive capsulitis and hypercholesterolemia: role of APO A1 lipoprotein polymorphism on etiology and severity.

PURPOSE: Relationship between shoulder adhesive capsulitis (AC) and hypercholesterolemia is known. The connecting link might be represented by the correlation between HDL and transforming growth factor beta (TGF-ß): normally, HDLs stimulate TGF-ß expression; the latter is employed in the development of fibrous tissue. We assess whether the presence of the Apo-A1-G75A-polymorphism, which is correlated to an enhanced HDL function, could be a risk factor for the genesis and severity of AC. METHODS: Peripheral blood samples of 27 patients [7M; 20F, mean age 54.81 (41-65)] with AC and hypercholesterolemia were submitted to polymerase chain reaction in order to evaluate the Apo-A1-G75A-polymorphism. Genome database was used as control. Two categories were obtained according to AC severity: type I (active forward flexion ≥ 100°) and type II (< 100°). Data were submitted to statistics. RESULTS: The prevalence of Apo-A1-G75A-polymorphism in the studied group and in the control group was 22.2% (10AG; 1AA; 16GG) and 19% (OR 1.22, IC 0.59-2.53, p > 0.05), respectively. Patients with type I and II capsulitis were 11 [flexion 148.0° (range 100°-165°)] and 16 [flexion 82.5° (range 50°-95°)], respectively. The prevalence of Apo-A1-G75A in type I was 18.1% (2AG; 9GG) and in type II was 56.3% (8GA; 1AA; 7GG), respectively (RR 1.87, IC 1.005-3.482, p < 0.05). CONCLUSIONS: Apo-A1-G75A-polymorphism is not necessary for the genesis, but it is a risk factor for severity of AC. LEVEL OF EVIDENCE: III.

Rotator cuff degeneration of the healthy shoulder in patients with unilateral arm amputation is not worsened by overuse.

PURPOSE: In order to evaluate whether overuse has a significant role in rotator cuff tear (RCT) aetiology, we evaluated both shoulders of patients with old unilateral arm amputation expecting a higher rate of RC degeneration in the healthy side. METHODS: Nineteen males and six females (mean age: 57.3 ± 10.1) with an old (>20 years) unilateral arm amputation were submitted to an MRI of both shoulders. Tendon status and muscle tropism were evaluated according to Sugaya and Fuchs classifications, respectively; the acromion humeral distance was measured. Statistical analysis was performed to verify the prevalence of Sugaya and Fuchs categories in each sides. RESULTS: A significant prevalence of Sugaya type II in the amputated side (p = 0.02) and of type I in the healthy side (p < 0.001) was found. Rotator cuff was healthy in 28 and 52% of amputated and non-amputated side, respectively. The mean acromio-humeral distances of the amputated and healthy side were 0.8 cm (SD: 0.1) and 0.9 cm (SD: 0.1), respectively, (p = 0.02). A significant prevalence of Fuchs type II category in the healthy side (p < 0.001) was found. Fuchs III/IV were observed in 40 and 12% of amputated and healthy side, respectively. CONCLUSIONS: The present study resizes the role of overuse on the aetiology of RCT. Cuff tear prevalence in not amputated shoulders, inevitably submitted to functional overload, was not higher than that of coetaneous subjects with two functional upper limbs. Shoulder non-use is a risk factor for rotator cuff tear. As the prevalence of rotator cuff degeneration/tear is higher in the amputee side, non-use is a more relevant risk factor than overuse. In the daily clinical practice, patients with rotator cuff tear should be encouraged to shoulder movement because rotator cuff tendon status could be worsened by disuse. LEVEL OF EVIDENCE: III.

Adhesive capsulitis of the shoulder: pain intensity and distribution.

PURPOSE: Papers regarding adhesive capsulitis (AC) of the shoulder focused on etiology, epidemiology, diagnosis, and treatment; until now, information on shoulder pain characteristics is still scarce. Our aim was to analyze pain intensity and distribution in patients with AC. METHODS: The study group was composed of 278 (133M-145F) consecutive patients with AC. After diagnosis, shoulder pain distribution was assessed through an upper limb pain map and pain intensity through a visual analog scale. Patients were distinguished on the basis of gender, age, time elapsed from onset of symptoms, and severity of functional limitation. Data were submitted to statistical analysis. RESULTS: Intensity of shoulder pain caused by AC was higher in females (p < 0.05); it did not vary with the side and between patient younger and older than 55 years. Patients whose pain arose from more than 3 months suffered a lower intensity of shoulder pain. Furthermore, pain intensity was higher in the most severe form of AC (active forward flexion < 60°) (p < 0.05). Pain was localized predominantly on the anterior aspect of the shoulder (dermatomes C5-C6) and rarely extended beyond the distal third of the arm. No differences were found in pain distribution between male and female, between patients with pain from less or more than 3 months and between different levels of AC severity (p > 0.05). CONCLUSION: Shoulder pain due to AC may be influenced by gender and severity of functional limitation. AC pain distribution principally involves anterior aspect of the shoulder with downward extension of the arm until its distal third. LEVELS OF EVIDENCE: Level IV.

Sleep quality and disturbances in patients with different-sized rotator cuff tear.

INTRODUCTION: The literature is unanimous in saying that shoulder pain, due to rotator cuff tear (RCT), may be mostly at night; to our knowledge, this statement is not supported by scientific evidence. Our aim was to investigate sleep quality and disturbances in patient with RCT and in a control group. MATERIALS AND METHODS: A case-control design study was used. We enrolled 324 consecutive patients (Group A) (156M-168F, mean age ± SD: 64.94 ± 6.97; range 47-74) who underwent arthroscopic rotator cuff repair. Tear size was determined intraoperatively. The control group (Group B) included 184 subjects (80M-104F, mean age ± SD = 63.34 ± 6.26; range 44-75) with no RCT. All participants were submitted to two standardized self-reported questionnaires evaluating sleep quality and disturbances: the Pittsburgh Sleep Quality Index (PSQI) and the Epworth Sleepiness Scale (ESS). Data were submitted to statistics. RESULTS: We found no significant differences between the two groups according to both PSQI (Group A: 5.22 ± 2.59; Group B: 5.21 ± 2.39) and ESS (Group A: 2.59 ± 2.54; Group B: 5.76 ± 2.63), p > 0.05. Patients with small tears had average PSQI and ESS higher than patients with large and massive lesions (p < 0.005). Pearson's test showed that tear severity was negatively correlated with both sleep latency (r 2 = -0.35, ß = 0.069, p < 0.005) and sleep disturbances (r 2 = -0.65, ß = 0.053, p < 0.001). CONCLUSIONS: RCT is only one of the responsible causes for sleep disturbance in middle-aged and elderly subjects. Patients with small tears have a poorer sleep quality with respect to those with a more severe tear; particularly, they not only take more time to fall asleep, but also have a more disturbed sleep compared to patients with large and massive tears. LEVEL OF EVIDENCE: III.

Subacromial Space Width: Does Overuse or Genetics Play a Greater Role in Determining It? An MRI Study on Elderly Twins.

BACKGROUND: Age and peripheral microcirculation disorders are the main causes of rotator cuff degeneration. Acromion variants may affect subacromial space width, causing a pathological narrowing of the space that may compromise the cuff integrity. However, it is not clear if the subacromial space width is genetically determined or if it changes according to loading conditions. To clarify this unresolved question, we performed an MRI (magnetic resonance imaging) study with the aim of evaluating the acromiohumeral distance in a group of elderly monozygotic and dizygotic twins, and we analyzed the obtained data using the twin design to separate the contributions of shared and unique environments. METHODS: We identified twenty-nine pairs of elderly twins. On MRI scans, we evaluated the acromiohumeral distance and health status of the rotator cuff tendons. Heritability, defined as the proportion of total variance of a specific characteristic in a particular population due to a genetic cause, was estimated as twice the difference between the intraclass correlation coefficients for monozygotic and dizygotic pairs. The influence of shared environment, due to environmental factors that contribute to twin and sibling similarity, was calculated as the difference between the monozygotic correlation coefficient and the heritability index. One-way ANOVA (analysis of variance) was used to estimate the differences among job categories, both in the total cohort and within zygosity groups. RESULTS: The intraclass correlation coefficient was substantially higher for monozygotic than for dizygotic twins, indicating a high degree of concordance of the acromiohumeral distance in pairs of individuals who shared 100% of their genes. The heritability index was 0.82, and shared and unique environmental contributions were both 0.09. There were no significant differences among subjects in different job categories, either in the total cohort (p = 0.685) or within the monozygotic (p = 0.719) and dizygotic groups (p = 0.957). CONCLUSIONS: The acromiohumeral distance is mainly genetically determined and only marginally influenced by external factors.

Twenty-four hour melatonin pattern in acromegaly: effect of acute octreotide administration.

We investigated the melatonin (MT) circadian rhythm before and after somatostatin (octreotide) acute administration in ten subjects (4 M, 6 F. 23-52 yr old) with active acromegaly due to pituitary microadenoma. Blood samples were drawn every 2 hours over a 48-h span; after 24-h basal blood collection, octreotide (Sandostatin, Sandoz) 100 micrograms sc/8 h was administered. As control, 7 healthy adult subjects (3M, 4F; 26-50 yr old) were studied in basal condition over a 24-h span. Plasma MT and GH levels were measured by RIA in each sample, IGF-1 levels were measured by immunoradiometric assay in basal and after octreotide morning samples. The comparisons were made by Mann-U-Withney and Wilcoxon test as appropriate; the existence of a MT circadian rhythm was validated by cosinor analysis; GH and MT values were correlated by Pearson's correlation coefficient. All of 7 control subjects and 2 of 10 acromegalics had significant 24-h MT rhythm. The area under curve (AUC), mesor and amplitude of the MT rhythms in acromegalics were significantly lower than in the controls (p < 0.001, 0.002 and 0.0006, respectively), with an earlier acrophase (median value: 22:14 vs 02:08 h of controls). Basal plasma IGF-1 levels and circadian GH concentrations were significantly increased in acromegalics in comparison with the control group. Octreotide administration significantly reduced GH, restoring a circadian MT rhythm in 5 of 10 acromegalics, with MT mean mesor and AUC not different from controls. Mean amplitude still remained lower than controls (p < 0.0006), with an earlier acrophase (median 00:01 h). No significant correlation was found between individual GH and MT levels. Our data indicate a reduction of MT circadian secretion in acromegaly, due especially to a blunted nocturnal increase with earlier MT peak; moreover, acute octreotide administration increase MT levels without modifying amplitude and phase of night-time secretion significantly. These findings suggest a negative interrelationship between GH and MT secretions or a facilitatory influence of somatostatin on daytime MT release only. This partial recovery of pineal secretion after octreotide in acromegalics could be a clinically significant contribution to improve their quality of life, considering that MT is involved in the regulation of several important functions.

Antisperm antibodies in prepubertal boys treated with chemotherapy for malignant or non-malignant diseases and in boys with genital tract abnormalities.

In several childhood diseases which have the ensuing risk of infertility in adult life because of direct hypothalamic-pituitary-testicular axis involvement, or as a consequence of therapeutic toxicity, the role of antisperm antibodies (ASA) is rarely addressed. The aim of this study was to investigate the occurrence of ASA in a large prepubertal male population (aged 1.2-13 years) consisting of three groups: Group I, 52 patients affected by malignant diseases (lymphoblastic leukaemia, malignant lymphoma, or Wilm's tumour, n = 42), or by nephrotic syndrome (n = 10); Group II, 212 patients with either genital tract abnormalities (cryptorchidism, inguinal hernia, funicular torsion or hypospadias, n = 202), or cystic fibrosis (n = 10); Group III: 100 age-matched normal boys. Group I and II patients were investigated at diagnosis and during or after treatment (drug, radiation or surgical therapy). Group III was used as controls. ASA were detected in sera by the Tray Agglutination Test (TAT) and indirect IgG, IgA and IgM immunobead tests (iIBT). All normal boys were ASA-negative using both tests. Twenty-six out of the 264 patients (9.8%) in Groups I and II were ASA-positive: 23 (8.7%) patients had a positive TAT with a titre of 1:32 to 1:128, whilst 14 (5.3%) had IgG-ASA after iIBT. Eleven patients (4.1%) were ASA-positive in both tests. Of the 26 ASA-positive boys, 24 had genital tract abnormalities (cryptorchidism, testicular torsion, hypospadias) and two had leukaemia with testicular infiltration. Treatment did not modify antibody positivity. Our data confirm that ASA can occur in prepubertal boys, mostly among cases with urogenital pathology, but that it is rare among other cases. Therefore autoimmune reaction against spermatozoa is another factor that should be considered in the evaluation of several conditions in childhood involving reproductive tract alteration and potential impairment of the blood testis (Sertoli cell) barrier.

Laparoscopic hysterectomy in a case of male pseudohermaphroditism with persistent Müllerian duct derivatives.

We describe laparoscopic diagnosis and treatment for a case of dysgenetic male pseudohermaphroditism with persistent Mullerian ducts. The patient, a 32 year old man, with a history of surgery for hypospadias and cryptorchidism during childhood, was referred because of anejaculation. He was of short stature, with male external genitalia composed of a small penis and hypoplastic testis (1 ml right, 6 ml left side). Plasma follicle stimulating hormone (FSH) was high (17 mUI/ml), testosterone low (1.9 ng/ml), and his karyotype was 46,XY. Pelvic ultrasound, nuclear magnetic resonance (NMR) and genitography disclosed a uterine-like structure with cavity communicating with the urethra. Laparoscopy and urethrocystoscopy confirmed the presence of a 4 cm uterus, which was removed endoscopically at the same time. A biopsy of the left gonad was also performed. The uterus contained endometrial tissue and was fibrotic. Histology of the left gonad showed spermatocytic arrest. We diagnosed dysgenetic male pseudohermaphroditism. Laparoscopy, in our opinion, is an optimal tool to diagnose and treat abnormal sexual conditions.