High degree of consensus on diagnosis and management of rotator cuff tears: a Delphi approach.

PURPOSE: To develop a consensus on diagnosis and treatment of rotator cuff tears. The study focused on selected areas: imaging, prognostic factors, treatment options, surgical techniques. METHODS: Panel was composed of all members of the shoulder committee of the Italian Society of Arthroscopy, Knee, Upper arm, Sport, Cartilage and Orthopedic techniques (SIAGASCOT). Four rounds were performed. The first round consisted of gathering questions which were then divided into seven blocks referring to: imaging, patient-related prognostic factors, treatment options, surgical steps, reparative techniques, surgical predictive factors, advanced techniques. Subsequent rounds consisted of condensation by means of online questionnaire and debates. Consensus was defined as two-thirds agreement on one answer. Descriptive statistic was used to summarize the data. RESULTS: Forty-one shoulder experts were involved. Fifty-six statements were finally formulated. A consensus could be achieved on 51. Experts agreed that preoperative magnetic resonance imaging is strongly recommended because it allows a careful evaluation of tear characteristics, while the role of US remains debatable. Controversial patient-related factors such as age, comorbidities, smoking and stiffness do not contraindicate the repair. From a surgical standpoint, the experts highlighted that pseudo-paralysis is not a contraindication to rotator cuff repair. Consensus on specific surgical steps was also achieved: capsular release should be performed only in stiff shoulders; footprint preparation is mandatory, while debridement of tendon edges is not essential. If necessary, a rotator interval release could be performed without interrupting the continuity between subscapularis and supraspinatus tendon; posterior delamination should be always included in the repair. Advanced techniques such as tendon transfers should be selected based on the main clinical deficit, while the superior capsule reconstruction plays a role only in combination with a functional repair. CONCLUSION: A consensus was achieved almost on every topic of controversy explored. Particularly, MRI was deemed necessary to determine tear characteristics, while radiographs remain important for differential diagnosis; age should not be considered a contraindication to surgery; pseudo-paralysis does not represent a contraindication to arthroscopic rotator cuff repair, but superior capsule reconstruction plays a role only in combination with a functional repair. Latissimus dorsi transfer plays a role when the main functional deficit is in elevation, while the lower trapezius transfer plays a role when the main functional deficit is the external-rotation. LEVEL OF EVIDENCE: V.

Imaging of Anatomical Variants of the Long Head Biceps Tendon.

Anatomical variants of the long head of biceps (LHB) tendon are widely discussed in the literature. As one of the few intra-articular tendons, magnetic resonance arthroscopy can quickly evaluate the proximal part of LHB morphology. It provides good assessment of both intra-articular and extra-articular portions of the tendons. In-depth knowledge about imaging of the anatomical LHB variants discussed in this article is useful preoperatively for orthopaedists and also helps avoid potential diagnostic misinterpretations.

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

BACKGROUND: Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases. METHODS: While most variants are novel or extremely rare, we report on 11 recurring variants in seven genes, including three known 'founder variants' in the Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies in ~550 European patients with JS and compared them with controls (>15 000 Italian plus gnomAD), and with an independent cohort of ~600 JS probands from the USA. RESULTS: All variants were markedly enriched in the European JS cohort compared with controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazim founder variant (TMEM216 c.218G>T) was significantly enriched in American compared with European patients with JS, while MKS1 c.1476T>G was about 10 times more frequent among European JS. Frequencies of other variants were comparable in the two cohorts. Genotyping of several markers identified four novel European founder haplotypes.Two recurrent variants (MKS1 c.1476T>G and KIAA0586 c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. However, while fibroblasts from a MKS1 c.1476T>G healthy homozygote showed impaired ability to form primary cilia and mildly reduced ciliary length, ciliary parameters were normal in cells from a KIAA0586 c.428delG healthy homozygote. CONCLUSION: This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants.

Problems, complications, and reinterventions in 4893 onlay humeral lateralized reverse shoulder arthroplasties, a systematic review: part II-problems and reinterventions.

BACKGROUND: Several modifications to the original Grammont reverse shoulder arthroplasty (RSA) design have been proposed to prevent distinctive issues, such as both glenoid and humeral lateralization. The aim of this systematic review was to determine rates of problems, complications, reoperations, and revisions after onlay lateralized humeral stem RSA, hypothesizing that these are design related. METHODS: This systematic review was performed in accordance with the PRISMA statement guidelines. A literature search was conducted (1 January 2000 to 14 April 2020) using PubMed, Cochrane Reviews, Scopus, and Google Scholar, employing several combinations of keywords: "reverse shoulder arthroplasty," "reverse shoulder prosthesis," "inverse shoulder arthroplasty," "inverse shoulder prosthesis," "problems," "complications," "results," "outcomes," "reoperation," and "revision." RESULTS: Thirty-one studies with 4893 RSA met inclusion criteria. The 892 postoperative problems and 296 postoperative complications represented overall problem and complication rates of 22.7% and 7.5%, respectively. Forty-one reoperations and 63 revisions resulted, with overall reoperation and revision rates of 1.7% and 2.6%, respectively. CONCLUSIONS: Problem, complication, and reintervention rates proved acceptable when implanting a high humeral lateralization stem RSA. The most frequent problem was scapular notching (12.6%), and the most common postoperative complication was scapular stress fracture (1.8%). An overall humeral complication rate of 1.9% was identified, whereas no humeral fractures or stem loosening were reported with short stems. Infections (1.3%) were the most common reason for component revision, followed by instability (0.8%). LEVEL OF EVIDENCE: Systematic review IV.

Problems, complications, and reinterventions in 4893 onlay humeral lateralized reverse shoulder arthroplasties: a systematic review (part I-complications).

BACKGROUND: Several modifications to the original Grammont reverse shoulder arthroplasty (RSA) design have been proposed to prevent distinctive issues, such as both glenoid and humeral lateralization. The aim of this systematic review was to determine rates of problems, complications, reoperations, and revisions after onlay lateralized humeral stem RSA, hypothesizing that these are design related. METHODS: This systematic review was performed in accordance with the PRISMA statement guidelines. A literature search was conducted (01.01.2000-14.04.2020) using PubMed, Cochrane Reviews, Scopus, and Google Scholar employing several combinations of keywords: "reverse shoulder arthroplasty," "reverse shoulder prosthesis," "inverse shoulder arthroplasty," "inverse shoulder prosthesis," "problems," "complications," "results," "outcomes," "reoperation," "revision." RESULTS: Thirty-one studies with 4893 RSA met inclusion criteria. The 892 postoperative problems and 296 postoperative complications represented overall problem and complication rates of 22.7% and 7.5%, respectively. Forty-one reoperations and 63 revisions resulted, with an overall reoperation rate of 1.7% and overall revision rate of 2.6%. CONCLUSIONS: Problem, complication, and reintervention rates proved acceptable when implanting a high humeral lateralization stem in RSA. The most frequent problem was scapular notching (12.6%), and the most common postoperative complication was scapular stress fracture (1.8%). An overall humeral complication rate of 1.9% was identified, whereas short stems reported no humeral fractures or stem loosening. Infections (1.3%) proved to be the most common reason for component revision, and instability had a complication rate of 0.8%. LEVEL OF EVIDENCE: Systematic review IV.

Long head biceps tendon instability: diagnostic performance of known and new MRI diagnostic signs.

OBJECTIVE: The aim of this work was to evaluate the inter-observer agreement and diagnostic performance values of 7 MRI signs (3 known and 4 new) of long head biceps tendon instability. MATERIALS AND METHODS: MRI of 86 patients were retrospectively evaluated. Inter-observer agreement and diagnostic performance of each diagnostic sign and of all combined signs (with the exception of detour sign) were tested for identification of biceps tendon instability, with arthroscopy as the reference standard. RESULTS: Agreement between expert operators was moderate to good. Sensitivity, specificity, and sign accuracy showed a variation respectively of the following: humeral chondral print 72-80%, 62-68%, and 70-76%; subchondral bone edema 24-31%, 84-97%, and 50%; biceps tendon angle 60-71%, 97-100%, and 74-81%, biceps tendon-groove distance 31-47%, 90-100%, and 56-64%; long head biceps subluxation/dislocation on axial plane 49-53%, 97-100%, and 66-70%; displacement sign 74-80%, 74-100%, and 74-87%; detour sign 51-64%, 58-81%, and 62-64%; and all signs 98-100%, 32-61%, and 75-86%. CONCLUSION: These diagnostic signs, both known and new, individually and/or in combination, provide a valid tool in the MRI diagnosis of long head biceps tendon instability.

Comma sign of subscapularis tear: diagnostic performance and magnetic resonance imaging appearance.

BACKGROUND: The main aim of this study was to evaluate the performance of magnetic resonance imaging (MRI) and interobserver agreement in the identification of the comma sign. The second objective was to look for a correlation between the comma sign and the detachment of the superficial fascia of the subscapularis. MATERIALS AND METHODS: Two radiologists, blinded to the arthroscopic findings, retrospectively assessed the magnetic resonance images of 110 shoulders and were asked to assess the presence of the comma sign and the intact subscapularis fascia. The inter-reader agreement and the MRI performance values for detection of the comma sign were calculated. In addition, the association between the intact superficial subscapularis fascia and the comma sign was evaluated. RESULTS: The agreement between the 2 radiologists was perfect. The following values were obtained: sensitivity, 90.9%; specificity, 98.8%; positive predictive value, 95.2%; negative predictive value, 97.7%; and accuracy, 97.2%. No association between the comma sign and subscapularis fascia lesions was found. CONCLUSION: MRI appears to be a reliable method for preoperative assessment of the comma sign. The comma sign appears not to be formed by the detached subscapularis fascia.

Arthroscopic reduction and subscapularis remplissage (ARR) of chronic posterior locked shoulder dislocation leads to optimized outcomes and low rate of complications.

PURPOSE: Unrecognized posterior shoulder dislocation with a concomitant humeral head fracture affects joint function and no consensus exists regarding treatment. The present study analyses clinical and radiographic outcomes of a novel arthroscopic technique for reducing chronic locked posterior shoulder dislocation associated with subscapularis remplissage. METHODS: The study comprises a retrospective analysis of consecutive chronic posterior locked shoulders (CPLS) with minimum 2-years follow-up of patients who had undergone McLaughlin technique arthroscopic modification for the treatment of CPLS with a reverse Hill-Sachs lesion. Active range of motion (ROM), Western Ontario (WOSI) and Constant Score (CS), were evaluated pre- and postoperatively. Plain radiographs and magnetic resonance imaging (MRI) scans were collected pre- and post-operatively, recording bone defect, osteoarthritis, cuff integrity/fatty infiltration, and the grade of filling of the reverse Hill-Sachs. RESULTS: Twelve male patients with a mean follow-up of 37.3 months ± 10.5 (range, 24-58) were included. Mean WOSI and CS scores improved from 41 to 92 and 28 to 94 points, respectively. ROM measurements all had significantly increased at final follow-up, with no significant differences in arm rotation. No defects were left unfilled at final MRI examination. CONCLUSION: The results of this uncontrolled study with a limited number of patients confirm that arthroscopic reduction and subscapularis remplissage is a highly effective and satisfactory treatment method resulting in no shoulder rotation deficits. LEVEL OF EVIDENCE: Level IV.

An Evolution of Shoulder Periprosthetic Infections Management: MicroDTTect, Bioactive Glass and Tantalum Cones Employment.

Periprosthetic joint infections of the shoulder (PJIS) are the major cause for revision within the first two post-operative years, and are challenging both to diagnose and treat. Success depends on early identification of microorganisms, appropriate surgical procedures and efficient antibiotic administration. The peculiar microbiology of the shoulder may render the criteria for hip/knee PJI management inappropriate. In addition, later cases with clinically subtle signs often present diagnostic challenges. In recent years, specific issues of PJIS have been managed through the use of new instruments, such as MicroDTTect in pathogen detection and Bioactive Glass and tantalum cones in humeral bone loss. In the literature to date, no reports have been found that discuss the application in shoulder revisions and infections. The early identification of the microorganisms that cause infection may help improve both treatment strategies and the efficacy of therapy. MicroDTTect proved to be more efficient than swab collection for bacterial identification in orthopedic surgery, thus reducing analysis costs. The increasing number of shoulder arthroplasties is associated with an increase in the number of revisions. In cases of massive metaphyseal humeral bone loss, several techniques have been described; no reports have been reported regarding tantalum in humeral bone loss management. In some cases the tantalum cones required adaptation for femoral diaphysis in the augmentation of the humerus metaphysis and bone loss management improvement. Obtaining stable osseointegration of prosthetic implants is one of the greatest issues in orthopedic surgery, and even more crucial in revisions. Bioactive glasses demonstrated good regenerative and osseointegration properties, and an excellent candidate as a bone graft, scaffold and antibiotics deliverer. The Bioactive glasses were used to increase prosthesis-bone interface stability and fill bone defects in PJIS revision surgeries, contributing to the prevention of re-infection. Longer-term follow-up will be necessary to determine if construction durability is improved in the long term.

Onlay Uncemented Lateralized Reverse Shoulder Arthroplasty for Fracture Sequelae Type 1 with Valgus/Varus Malunion: Deltoid Lengthening and Outcomes.

The successful treatment of proximal humeral fractures remains challenging for shoulder surgeons, and failure rates are high, regardless of initial treatment. This study aimed to analyze the clinical and radiographic midterm results of onlay lateralized cementless stem reverse shoulder arthroplasty (RSA) in patients with valgus/varus malunion proximal humerus fracture sequelae without metaphyseal osteotomy. We retrospectively studied 35 cases with the diagnosis of fracture sequelae of the proximal part of the humerus with valgus/varus malunion. The mean duration of follow-up was 4.6 years (range, 2 to 7 years), and the mean time between fracture and arthroplasty was 6 years (1 to 32 years). Seventeen patients (48.6%) had initially been treated nonoperatively. The Constant score (CS), active range of motion, and radiographs of the affected shoulders, as well as the acromion to greater tuberosity (AGT) distance and deltoid length (DL), were analyzed before surgery and at their latest follow-up. A total of thirty-three patients (94.3%) rated their outcome as very good or good. Mean CS, forward flexion, and external rotation improved significantly (p < 0.0001), as did internal rotation and pain (p < 0.05). AGT distance significantly increased postoperatively from 14.7 to 43.3 mm, as did DL from 143 to 170 mm (p < 0.05). There was no correlation between the outcomes and valgus/varus deformity, previous surgeries, or AGT distance/DL. A total of four complications occurred (11.4%): two dislocations were detected (5.7%) and successfully revised with a longer cemented stem. Onlay lateralized uncemented stem RSA improves clinical outcomes and decreases complications when treating valgus/varus malunion fracture sequelae, avoiding intraoperative technical challenges, such as tuberosities osteotomy conscious of bone loss and proper deltoid tensioning.

The Infinity-Lock System for Chronic Grade III AC Joint Dislocation: A Novel Technique, Rehabilitation Protocol and Short Term Results.

BACKGROUND: the choice of treatment of chronic grade III acromioclavicular (AC) joint dislocation is controversial. Several surgical techniques have been described in the literature, responding differently to nonoperative treatment. The aim of this study is to describe a modified technique of stabilizing an AC joint dislocation with the new Infinity-Lock Button System, in order to demonstrate that it is effective in optimizing outcomes and decreasing complications. METHODS: this is a retrospective study of 15 patients who underwent surgical stabilization of the AC joint dislocation between 2018 and 2019, through modified surgical technique using the Infinity-Lock Button System. Active range of motion (ROM), Specific Acromio Clavicular Score (SACS) and Constant Score (CS) were evaluated preoperatively and postoperatively at last 18 months follow up. Patients rated their outcomes as very good, good, satisfactory, or unsatisfactory. RESULTS: a total of twelve patients rated their outcome as very good and three as good; no patients were dissatisfied with surgery. The mean Constant Score increased from 38 points preoperatively to 95 postoperatively, the average SACS score decreased from 52 points preoperatively to 10 postoperatively, both significantly. No complications were detected. CONCLUSION: the described technique is effective for treatment of chronic grade III AC joint dislocation, resulting in elevated satisfaction ratings and predictable outcomes. Nevertheless, further longer term follow-up studies are required.

Experience-optimised fast track improves outcomes and decreases complications in total knee arthroplasty.

PURPOSE: The aim of this study was to describe an advanced total knee arthroplasty (TKA) fast-track programme and determine discharge parameters during hospitalisation, as well as patient satisfaction, outcomes and complications within the first 12 months after surgery. METHODS: This prospective study was based on patients selected consecutively for primary elective TKA, undergoing surgery between 2014 and 2017 in an established fast-track setting. Hospitalisation-related parameters were collected: demographics, body mass index (BMI), surgical time, ischaemia time, haemoglobin values, blood transfusions, length of stay, weight-bearing and stair-climbing time, opioid administration, preoperative and discharge loss of extension and maximum active flexion of the knee, visual analogue scale (VAS), 12-month follow-up satisfaction rate and range of motion, any complications, hospital re-admission and re-operation within the first 12 months. Differences were determined using t-tests. RESULTS: A total of 704 total knee replacements implanted in 481 patients were included in the study and 223 patients had a bilateral TKA. Their mean age was 69.8 years (range 57-88 years). At the 12-month follow-up, 623 patients (88.5%) reported being satisfied or very satisfied and 15 (2.1%) were dissatisfied with their TKA, mean active flexion and loss of extension were 104.4° and 2.3°, respectively. A total of 15 complications occurred (two percent): five painful knees, three knee stiffness, three haematomas, two infections, one hospital re-admission and one deep venous thrombosis. No cases of pulmonary embolism and death related to surgery were reported. CONCLUSION: The study reports on an advanced fast-track programme for TKA with a low incidence of surgery- and hospitalisation-related issues and complications and without any severe adverse events during the first year. On average, the fast-track programme had a short length of stay, an early recovery of weight-bearing, knee mobility, pain control and a high satisfaction rate, accompanied with an acceptable 12 month range of motion.

Clavicular Osteochondroma: Extremely Rare Cause of Impingement Syndrome.

INTRODUCTION: Impingement syndrome is one of the most common pain disorders of the shoulder; it may be due by structural alteration of acromion, coracoacromial ligament, acromioclavicular joint, biceps tendon, or coracoid process; however, in rare cases, impingement syndrome may be due also by benign tumors such as osteochondroma. CASE REPORT: We presented a case of 27-year-old male with clavicular impingement syndrome secondary to osteochondroma. He received conservative treatment before the diagnosis of the osteochondroma. Radiograph, computed tomography, and magnetic resonance imaging of the shoulder were performed. As the failure of non-operative treatment, the patient underwent to open surgical procedure with the excision of the osteochondroma. CONCLUSION: Clavicular osteochondroma is a very rare cause of impingement syndrome, and it may cause severe shoulder impingement with reduction of the range of movements. Osteochondroma may be complicated by a number of secondary abnormalities, including inflammatory changes of the bursa exostotica ("exostosis bursata") covering the cartilaginous cap, pressure on nerves, blood vessels, and the adjacent bone. The least common complication seen in <1% of cases of solitary lesions is malignant transformation to chondrosarcoma. The diagnosis of clavicular osteochondroma should be considered in any patient with shoulder impingement syndrome, and good functional results can be expected following total excision.

Sonography of chondral print on humeral head.

OBJECTIVE: The aim of this study is to determine the diagnostic accuracy of sonography in order to identify the chondral print on the humeral head. MATERIALS AND METHODS: In total, 44 patients who had already been candidates for arthroscopic surgery were prospectively studied with ultrasound to assess the presence of humeral subchondral erosion at the level of the biceps pulley; no patient had undergone previous surgery or radiographic calcification of rotator cuff tendons. Using arthroscopy as the reference standard the sensitivity, specificity, positive predictive, negative predictive and diagnostic accuracy values were calculated. RESULTS: Of the 44 patients, arthroscopy showed the humeral chondral print in 30 patients. Of the 30 arthroscopy proven humeral chondral prints, ultrasound identified 28 subchondral erosions at the same level, with two false negatives. One of the 14 patients without arthroscopic humeral chondral print was positive for subchondral erosion at ultrasound. The sensitivity, specificity, positive predictive, negative predictive, and diagnostic accuracy values of ultrasound were respectively of 93, 93, 96, 87 and 93%. CONCLUSION: Ultrasound has a good diagnostic accuracy in identifying the chondral print sign.

The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac disease.

AIM: To screen for neurological and behavioural disorders in a paediatric cohort of patients with coeliac disease (CD) in order to detect possible differences related to compliance with gluten-free diet (GFD). METHODS: We recruited a cohort of 139 patients divided into three groups: A (40 patients with newly diagnosed CD), B (54 patients with CD in remission after GFD) and C (45 patients with potential CD). Patients first underwent a screening neurological visit, detecting signs associated with CD, and then were evaluated with Pediatric Symptom Checklist (PSC), a psychosocial screen for cognitive, emotional and behavioural problems. RESULTS: In the group B as compared to group A, there was a statistically significant decrease (p < 0.05) in the incidence of chronic fatigue, headache and inattention. The same applied to patients compliant to GFD vs. non-compliant. Potential coeliacs turning into overt CD had a higher incidence of headache and inattention compared with potential coeliacs showing normal mucosa. The PSC mean score in group A was statistically higher than in group B. CONCLUSION: Gluten-free diet had a positive impact on neuropsychiatric symptoms. We suggest the use of PSC in the routine follow-up of coeliacs in order to allow an early detection of psychosocial problems.

De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.

We report on a child with a de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The deletion involved chromosome bands 13q12.3-13q14.11 and determined the loss of ≥50 genes. A second deletion on chromosome 12p11.3p11.22 of 43-167 kb, including about 12 genes, was unlikely of clinical relevance because inherited from the asymptomatic father. The child had developmental delay, dysmorphisms, and many features reminiscent of ataxia-telangiectasia (A-T), as cerebellar ataxia, oculocutaneus telangiectasia, and recurrent upper airway infections. Atraumatic fractures of the metatarsus were noted. Moreover, this is a rare case of 13q deletion syndrome associated with peripheral blood white cells radiosensitivity to bleomycin, reminiscent of what previously reported on X-ray hypersensitivity of fibroblasts from patients with alterations of this chromosome. The immunological evaluation revealed increased IgM serum levels and a low proliferative response to mitogens, PHA, and CD3 cross-linking (CD3 XL). After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age.

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.

The immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agamma-globulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark of the disorder which results from targeted chromosomal rearrangements related to a genomic methylation defect. We describe a patient carrying a homozygous mutation of the ZBTB24 gene, which has been recently shown to be responsible for ICF syndrome type 2. Our patient presented with intellectual disability, multiple café-au-lait spots, and a large cerebral arachnoidal cyst. Although laboratory signs of impaired immune function, such as reduced serum IgM were detected, our patient did not present clinical manifestations of immunodeficiency. Brain malformations abnormalities have not been reported so far in ICF syndrome and it can be speculated that ZBTB24 mutations may alter cerebral development. Nevertheless, we cannot rule out that the presence of the cerebral cyst in the patient is coincidental. In summary, our patient illustrates that clinical evidence of immunodeficiency is not a universal feature of ICF2 syndrome type 2 and suggests that brain malformations may be present in other ICF cases.

Neonatal urinary cotinine correlates with behavioral alterations in newborns prenatally exposed to tobacco smoke.

Altered behavior due to prenatal smoke exposure was examined in 25 neonates born from smoking mothers who consumed at least 5 cigarettes/d during the entire gestation. Data were compared with 25 matched neonates born from nonsmoking mothers. Neonatal behavior was evaluated using the Brazelton Neonatal Behavioral Assessment Scale (BNBAS). Antenatal exposure to tobacco smoke at the end of the pregnancy was determined by measurement of urinary cotinine. Newborns from smoking mothers showed significant lower scores in various BNBAS items compared with neonates from nonsmoking mothers. A strong correlation was observed between infant irritability and urinary cotinine in newborns from smoker and nonsmoking mothers and with number of daily smoked cigarettes and maternal nicotine daily intake of infants exposed to active maternal smoking. Linear regression analysis showed that urinary cotinine was the best predictor of infant irritability (r(2) = 0.727). The latter was also associated to the neonate's low level of attention and poor response to inanimate auditory stimuli. Among infants from nonsmoking mothers, paternal smoking significantly correlated with infant urinary cotinine and infant irritability, being also the best predictor of irritability (r(2) = 0.364). Neonatal behavior can be significantly altered in a dose-dependent manner even after modest prenatal exposure to tobacco smoke.

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Patients with Taylor-type focal cortical dysplasia (TTFCD) generally present with medically intractable epilepsy and impaired neurological and/or intellectual functioning. Surgery usually proves to be the only treatment approach leading to control of seizures. We describe a 17-year-old girl with TTFCD who exhibited a very long period of seizure remission. Combined clinical and neuroimaging findings were compatible with a diagnosis of a balloon cell-subtype TTFCD. As for the clinical course, partial motor seizures began at one year of age and ceased at five: our patient has had no seizure recurrence over a 12-year-follow-up. Moreover, throughout the 15-year follow-up, neurological examinations and cognitive abilities always remained within normal limits. Neuropsychological assessment clearly showed no impairments in executive functions: planning abilities, working memory, attention and impulse control, or constructive aspects of motor coordination. The predominant deficits pertained to verbal abilities in the context of borderline intellectual performances. To our knowledge, this case report documents the longest duration of seizure remission in a patient with TTFCD, thus emphasizing the possible benign course of such dysplastic lesions which usually have a poor prognosis, leading to early surgical treatment.