DNA Methylation and Allelic Polymorphism at the Dopamine Transporter Promoter Affect Internalizing and Externalizing Symptoms in Preschoolers.

The role of the dopamine transporter (DAT) in the onset and maintenance of emotional-behavioral difficulties is recognized in adults, adolescents and school-age children, whereas few studies in this field have focused on preschoolers. The study recruited 2-year old children (N = 152) in the general population assessing the possible effect of DAT methylation and allelic polymorphism on internalizing and externalizing symptoms, also exploring whether epigenetic and genetic variability interact. Our results showed that DAT methylation is significantly associated with all the dimensions of children's emotional/behavioral functioning in children carrying 10/10-3/3-8/10 polymorphisms but not in children carrying 9/10-9/9 allele repeats. Understanding the influence of genetic/epigenetic factors on maladaptive emotional/behavioral outcomes in young children, can be of great help in programming effective prevention and intervention plans and can be a valid aid to alleviate psychopathological symptoms before they crystalize into more severe clinical conditions in later life.

Late consolidation of the scaphoid. Case report and literature review.

Scaphoid fractures are a common wrist injury accounting for 2-7% of all adult fractures. Nonunion is described in 5-12% of cases leading to osteoarthritis. Several classifications have been developed focused on this pathology and its complication. We present a case of a 28 years old male patient with a scaphoid fracture and nonunion who spontaneously consolidates without treatment. We performed a literature review to recognize this pathology, its common evolution and possible treatment options.

Las fracturas de escafoides son una lesión frecuente de la muñeca y representan de 2-7% de todas las fracturas en adultos. La no unión se describe en 5-12% de los casos y conduce a la osteoartritis. Se han desarrollado varias clasificaciones centradas en esta patología y su complicación. Presentamos el caso de un paciente varón de 28 años con fractura y no unión de escafoides que consolida espontáneamente sin tratamiento. Realizamos una revisión bibliográfica para reconocer esta patología, su evolución habitual y las posibles opciones de tratamiento.

The use of an anatomical implant compared to a straight LCP decreases extraction in posterior humeral MIPO. / La utilización de un implante anatómico comparado a una LCP recta disminuye su extracción en la osteosíntesis percutánea posterior del húmero.

PURPOSE: Posterior MIPO approach in the humerus has been described by using a 4.5mm LCP plate. Although straight plates have shown good results, they have not been designed to adapt to the distal humeral metaphysis. The goal of the study was to test the null hypothesis that there is no difference in hardware removal after posterior MIPO with either a straight or a pre-contoured plate. METHODS: Patients older than 18 years, who had suffered mid-distal humeral shaft fracture, were treated by a posterior MIPO technique with a locking plate and had a minimum of 12-month follow-up were retrospectively included. Patients were separated into: group 1 (LCP 4.5mm straight plate); and group 2 (3.5mm anatomically shaped plate). Clinical and radiological evaluation were performed in the postoperative period. Patient-reported outcomes and the need of hardware removal because of pain were assessed. RESULTS: Sixty-seven patients fulfilled the inclusion criteria. Twenty-seven patients in group 1 and 40 in group 2. No patient was lost to follow-up. There were no statistical differences between in patient reported outcomes measures. All the fractures healed. Within group 1, 18% (95%CI: 6-38%) of the patients required implant removal while in group 2 this incidence was 0% (95%CI: 0-9%) (P 0.009). CONCLUSION: These results suggest that the use of a 4.5mm LCP compared to an anatomical 3.5mm LCP in posterior MIPO of the humerus generates greater discomfort and therefore leads to a 18% increase in the risk of implant removal.

[Translated article] The use of an anatomical implant compared to a straight LCP decreases extraction in posterior humeral MIPO.

PURPOSE: Posterior MIPO approach in the humerus has been described by using a 4.5mm LCP plate. Although straight plates have shown good results, they have not been designed to adapt to the distal humeral metaphysis. The goal of the study was to test the null hypothesis that there is no difference in hardware removal after posterior MIPO with either a straight or a pre-contoured plate. METHODS: Patients older than 18 years, who had suffered mid-distal humeral shaft fracture, were treated by a posterior MIPO technique with a locking plate and had a minimum of 12-month follow-up were retrospectively included. Patients were separated into: group 1 (LCP 4.5mm straight plate); and group 2 (3.5mm anatomically shaped plate). Clinical and radiological evaluations were performed in the postoperative period. Patient-reported outcomes and the need of hardware removal because of pain were assessed. RESULTS: Sixty-seven patients fulfilled the inclusion criteria. Twenty-seven patients in group 1 and 40 in group 2. No patient was lost to follow-up. There were no statistical differences between in patient reported outcomes measures. All the fractures healed. Within group 1, 18% (95%CI: 6-38%) of the patients required implant removal while in group 2 this incidence was 0% (95%CI: 0-9%) (P 0.009). CONCLUSION: These results suggest that the use of a 4.5mm LCP compared to an anatomical 3.5mm LCP in posterior MIPO of the humerus generates greater discomfort and therefore leads to a 18% increase in the risk of implant removal.

[Digital artery pseudoaneurysm. Case report and systematic review of the literature]. / Pseudoaneurisma de arteria digital. Reporte de un caso y revisión sistemática de la bibliografía.

INTRODUCTION: aneurysms are focal and permanent dilations of an artery; in pseudoaneurysms, the normal layers of the blood vessel are replaced by fibrous tissue. Due to their low incidence, as well as the diagnostic and therapeutic challenge they represent; our objective is to present the clinical case of a pseudoaneurysm of a digital artery of the hand and to carry out a systematic review of this pathology. MATERIAL AND METHODS: literature search in Medline, using the terms "digital artery" and "aneurysm." Studies of vascular dilation pathology affecting the hand and fingers were incorporated. Studies with pathology of proximal involvement of the hand were excluded. CASE PRESENTATION: a 79-year-old female patient who, after a sharp force trauma to the fifth finger of the left hand, develops a rapidly growing necrotic tumor. She had ultrasound and angiography that suggested hematoma. Surgical management was decided, during which it was observed that the tumor involved ulnar collateral digital artery of the fifth finger. The lesion and the arterial segment involved were resected. Post-surgical course without complications. The histopathological diagnosis of pseudoaneurysm of the lesion was confirmed. DISCUSSION: traumatic etiology is the most frequent cause of digital aneurysms. Risk factors for pseudoaneurysms include sharp force trauma and alterations of the coagulation pathways, as in the case presented. CONCLUSION: the pseudoaneurysm of a digital artery is a rare pathology with great variability of therapeutic management. Surgical resection of the lesion with vascular flow reconstruction is the recommended treatment.

INTRODUCCIÓN: los aneurismas son dilataciones vasculares localizadas y permanentes de una arteria; en los pseudoaneurismas, las capas normales del vaso sanguíneo son reemplazadas por tejido fibroso. Debido a su baja incidencia, así como el desafío diagnóstico y terapéutico que representan; nuestro objetivo es presentar el caso clínico de un pseudoaneurisma de una arteria digital de la mano y realizar una revisión sistemática sobre dicha patología. MATERIAL Y MÉTODOS: búsqueda bibliográfica en Medline, utilizando los términos "arteria digital" y "aneurisma". Se incorporaron estudios de patología de dilatación vascular que afecte la mano y los dedos. Se excluyeron trabajos con patología de afección proximal de la mano. PRESENTACIÓN DE CASO: paciente femenino de 79 años de edad, que posterior a herida cortante de quinto dedo de mano izquierda, desarrolla tumoración necrótica de rápido crecimiento. Contaba con ecografía y angiografía que sugerían hematoma. Se decidió manejo quirúrgico, durante el cual se observó que la tumoración involucraba arteria digital colateral cubital del quinto dedo. Se resecó lesión y segmento arterial involucrado. Cursó postquirúrgico sin complicaciones. Se confirmó el diagnóstico histopatológico de pseudoaneurisma de la lesión. DISCUSIÓN: la etiología traumática es la causa más frecuente de los aneurismas digitales. Los factores de riesgo para los pseudoaneurismas incluyen lesiones penetrantes y alteraciones de la cascada de coagulación, como en el caso presentado. CONCLUSIÓN: el pseudoaneurisma de una arteria digital es una patología rara y con gran variabilidad de manejo terapéutico. La resección quirúrgica de la lesión con la reconstrucción del flujo vascular, es el tratamiento recomendado.

Patient perspectives following initiation of elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis and advanced lung disease.

BACKGOUND: Elexacaftor-tezacaftor-ivacaftor partially restores cystic fibrosis transmembrane conductance regulator function, and has been shown to induce significant clinical improvement in patients with at least one Phe508del allele. Yet little data exist on patient perspectives following elexacaftor-tezacaftor-ivacaftor initiation. METHODS: A mixed methods study was conducted using an online 13-item questionnaire (including 9 closed questions and 4 open questions), submitted from July 10th to August 21th 2020 to French patients aged 12 years and older with advanced CF who were treated with elexacaftor-tezacaftor-ivacaftor. Their responses were summarized as numbers (%), and free-text items were analysed using a grounded theory approach. RESULTS: Of 245 patients who started elexacaftor-tezacaftor-ivacaftor in France, 101 (41%) participated. Median [IQR] age was 35 [28-41] years and duration of elexacaftor-tezacaftor-ivacaftor treatment was 4.3 [3.0-5.6] months. Patients generally reported a rapid impact on respiratory symptoms, sleep quality, general well-being and physical self-esteem, and a reduction in overall treatment burden. The majority of patients contrasted treatment burden, symptom severity, depression and a closed future marked by death or transplantation before elexacaftor-tezacaftor-ivacaftor, to renewed and unexpected physical strength, leading to greater self-confidence, autonomy and long-term planning, after treatment initiation. A small number of patients expressed concerns, mainly regarding changes in body representation and/or the fear of becoming dependent on the treatment. CONCLUSION: After initiation of elexacaftor-tezacaftor-ivacaftor, CF patients with advanced disease reported rapid and positive physical, psychological and social effects, which translated into improved quality of life and the formulation of new life goals.

Galeazzi fracture-dislocations: Long-term prognosis of the distal radioulnar joint.

The aim of the present study was to evaluate long-term functional and radiographic outcome in the distal radioulnar joint (DRUJ) for Galeazzi fracture-dislocation after anatomic reduction and rigid fixation of the radius. Fourteen patients, with an average age of 38 years, presenting with Galeazzi fracture-dislocation treated by open reduction and internal fixation (ORIF) of the radius and closed reduction of the DRUJ were retrospectively evaluated, with a minimum follow-up of 6 years. At final evaluation (mean: 8 years), the DRUJ was objectively and subjectively evaluated for range of motion (RoM), grip strength, ballottement test, pain on axial loading, function on visual analog scale (VAS) and DASH score. Radiographs and dynamic CT scans were performed to screen for DRUJ instability and/or osteoarthritis. Six of the patients had a positive comparative ballottement test, but none reported pain during the maneuver. No significant differences in RoM were found between the injured and uninjured wrist. Mean grip strength in the injured wrist was 77% of the contralateral value. Mean pain on VAS was 0.6. Mean global function on VAS was 9. Mean DASH score was 3. Dynamic CT showed no clear subluxation in any of the patients, and none showed severe articular changes. Our findings suggest that long-term clinical and radiological prognosis for the DRUJ in Galeazzi lesions is favorable when adequate closed reduction of the ulna is achieved after anatomical ORIF of the radius. LEVEL OF EVIDENCE: IV. Therapeutic case series.

[Dorsally displaced intra-articular distal radius fractures treated by locked palmar plate. Technique and results]. / Les fractures intraarticulaires du radius distal à déplacement postérieur traitées par plaque palmaire à stabilité angulaire. Technique et résultats.

OBJECTIVES: The purpose of this study was to evaluate the results and complications of locked palmar plating in patients with articular fracture of the distal radius. METHODS: Twenty-two patients were reviewed retrospectively. The average age was 68 years. All fractures were classified as Type C according to the AO classification. Clinical and functional examination including range of motion, grip strength, pain and return to previous activities were assessed. Loss of radial height, radial inclination, palmar tilt and ulnar variance were evaluated with preoperative and postoperative radiographs. RESULTS: At an average follow-up of 10 months, the range of motion was 124 degrees in flexion and extension and 178 degrees in pronation and supination. Grip strength was 80% of the opposite side. Fifteen patients were free of pain. Three patients suffered tenosynovitis of the extensor tendons. Radiographic measurements averaged 11 mm radial height, 21 degrees radial inclination, 4 degrees palmar tilt and 1 mm ulnar variance. CONCLUSIONS: The result of this study showed that locked palmar plating of articular distal radius fractures is effective even in cases of metaphyseal comminution with a low rate of complications.

Developmental care, neonatal behavior and postnatal maternal depressive symptomatology predict internalizing problems at 18 months for very preterm children.

OBJECTIVE: To provide a prospective developmental model for behavioral outcomes in preterm infants in relation to developmental care (DC) practices and postnatal maternal depression. STUDY DESIGN: A longitudinal, multicenter, follow-up study conducted in 25 Italian tertiary neonatal intensive care units (NICUs). Participants were 162 healthy very preterm infants and their mothers. The level of quality of DC was assessed for each hospital. Infant's neurobehavioral profile was evaluated twice: at discharge (T1) and at 18 months for behavioral problems (T3). Maternal depressive symptomatology was measured at T1 and at 6 months (T2). RESULTS: Low-quality DC in NICUs was associated with lower levels of infant neurobehavioral adaptability and higher levels of maternal depressive symptoms. Maternal depressive symptomatology in conjunction with higher infant dysregulation predicted more internalizing problems at 18 months of age. CONCLUSION: DC interventions and postnatal maternal depression, as well as infant behavior have an impact on short- and long-term infant outcomes.

Does infant negative emotionality moderate the effect of maternal depression on motor development?

Maternal depression represents an important social/environmental factor in early childhood; however, its effect on children's motor development may vary depending on the role of infants' dispositional variables. The objective of this study is to investigate the effect of the interaction between maternal depressive symptoms in the first two years of a child's life and the child's temperamental negative emotionality on motor development during this time. Using a cross-sectional study, we assessed 272 infants aged 0 to 24 months old and their mothers. We measured the following variables: maternal depression, infant's negative emotionality, and motor development. A three-way interaction effect highlights that negative emotionality in infants and maternal depression together affect children's overall motor growth trajectory. Infants with low negative emotionality display no effect of maternal depression on motor development. Conversely, infants with high negative emotionality seem to be more susceptible to the effect of maternal depression. Specifically, high maternal depression tends to foster the negative effect of infant's negativity on motor development across time, albeit not significantly. Finally, the absence of maternal depression significantly buffers negative temperament in infants. Findings highlighted the importance of integrating different perspectives when describing early motor growth. In fact, only when considering the interdependence of potential predictors their effect on the motor growth significantly emerges. Screening for early temperamental vulnerability might help in tailoring interventions to prevent maternal depression from affecting infants' motor development.

Extensor Tendons Rupture after Volar Plating of Distal Radius Fracture Related to a Dorsal Radial Metaphyseal Bone Spur.

Extensor tendon ruptures due to volar plating in distal radius fractures have mostly been described in relation with technique failures such as screw prominence and drill penetration. We report the case of a 71-year-old female with a C2 distal radius fracture with severe dorsal metaphyseal comminution. The patient underwent surgical treatment with reduction of the large fragments and fixation with a volar locking plate; the small dorsal metaphyseal nonarticular fragments were not reduced. Six months later, the patient developed extensor digitorum communis (EDC) rupture and extensor indicis proprius (EIP) laceration in coincidence with the dorsal comminution turned into a bony spur. The possible association between the extensor tendon injury and the dorsal residual metaphyseal bony spur in the distal radius fractures is unusual but should be taken into account in fracture patterns presenting dorsal comminution.

Infected nonunion of the humerus treated with an antibiotic cement rod. Case report.

The authors present a case of an infected nonunion of the humerus treated initially with reaming of the medullar canal followed by the introduction of an antibiotic-impregnated intramedullary rod. Reconstruction of the humerus with bone fixation and bone graft was performed in a second stage. The final result was healing of the fracture and a good functional result with no evidence of recurrence of infection at a 25 months follow up.

Greater brain response to emotional expressions of their own children in mothers of preterm infants: an fMRI study.

OBJECTIVE: The birth of a preterm infant and Neonatal Intensive Care Unit hospitalization constitute a potentially traumatic experience for mothers. Although behavioral studies investigated the parenting stress in preterm mothers, no study focused on the underlying neural mechanisms. We examined the effect of preterm births in mothers, by comparing brain activation in mothers of preterm and full-term infants. STUDY DESIGN: We used functional magnetic resonance imaging to measure the cerebral response of 10 first-time mothers of preterm infants (gestational age <32 weeks and/or birth weight <1500) and 11 mothers of full-term infants, viewing happy-, neutral- and distress-face images of their own infant, along with a matched unknown infant. RESULTS: While viewing own infant's face preterm mothers showed increased activation in emotional processing area (i.e., inferior frontal gyrus) and social cognition (i.e., supramarginal gyrus) and affiliative behavior (i.e., insula). CONCLUSION: Differential brain activation patterns in mothers appears to be a function of the atypical parenthood transition related to prematurity.

As tears go by: Baby tears trigger more brain activity than adult tears in nulliparous women.

The current functional magnetic resonance imaging study examines brain activity during the perception of infant and adult tears. Infant tears evoke stronger responses in the visual cortex than adult tears, indicating that infant tears are highly salient. In addition, our study shows that infant tears uniquely activate somatosensory pain regions, which could stimulate actions directed at the elimination of the source of pain. Shedding tears may be a strong means to elicit the parent's sharing of the infant's feelings, thereby strengthening caregiver-infant bonding and securing infant survival.

Total elbow arthroplasty for the treatment of distal humeral fractures. / Artroplastia total de codo para el tratamiento de fracturas del húmero distal.

OBJECTIVE: To report the clinical-functional outcomes of the treatment of humeral distal fractures with a total elbow prosthesis. MATERIAL AND METHODS: This retrospective study was performed in two surgical centres. A total of 23patients were included, with a mean age of 79years, and of which 21 were women. The inclusion criteria were: patients with humeral distal fractures, operated on using a Coonrad-Morrey prosthesis, and with a follow-up of more than one year. According to AO classification, 15fractures were type C3, 7 C2 and 1 A2. All patients were operated on without de-insertion of the extensor mechanism. The mean follow-up was 40 months. RESULTS: Flexor-extension was 123-17°, with a total mobility arc of 106° (80% of the contralateral side). Pain, according to a visual analogue scale was 1. The Mayo Elbow Performance Index (MEPI) was 83 points. Excellent results were obtained in 8 patients, good in 13, medium in 1, and poor in 1. The mean DASH (disability) score was 24 points. CONCLUSION: Treatment of humeral distal fractures with total elbow arthroplasty could be a good treatment option, but indications must be limited to patients with complex fractures, poor bone quality, with osteoporosis and low functional demands. In younger patients, the use is limited to serious cases where there is no other treatment option. LEVEL OF EVIDENCE: Level of Evidence IV.

Posterior minimally invasive plate osteosynthesis (MIPO) of distal third humeral shaft fractures with segmental isolation of the radial nerve.

UNLABELLED: The aim of this study was to evaluate the clinical, radiographic, and functional outcomes of a cohort of patients with distal third humeral shaft fractures treated using a posterior minimally invasive plate osteosynthesis (MIPO) technique. Twenty-one patients were retrospectively evaluated, 13 men and 8 women with an average age of 37 years. The surgery was performed through two posterior incisions away from the fracture site. The radial nerve was identified and protected. The fracture was fixed with a narrow 4.5/5.0mm locking compression plate. After an average follow-up of 22 months, flexion-extension of the elbow was 138°±7°, with a range of motion of 131°. Shoulder motion was 160° in forward flexion, 59° in external rotation, and internal rotation was to the spinous process of 9th thoracic vertebra. Pain severity was 0.5 on the VAS. The DASH score was 9. Average Constant score was 84. MEPI was 97. Fracture union was obtained in all patients. One patient developed transient postoperative radial nerve palsy. These results demonstrate that the posterior MIPO technique is a reliable option for treating distal third humeral shaft fractures. LEVEL OF EVIDENCE: 4.

Neoadjuvant M-VAC (methotrexate, vinblastine, adriamycin, and cisplatin) chemotherapy and bladder preservation for muscle-infiltrating transitional cell carcinoma of the bladder.

A group of 66 patients with locally advanced T2-T4 NOMO TCC of the bladder were treated with three cycles of neo-adjuvant M-VAC chemotherapy. Of 65 evaluable patients, 18 (28%) were T2, 22 (34%) were T3a, 21 (33%) were T3b, and 4 (6%) were T4a. Patients were restaged clinically by repeat CT scan and TURB and were to undergo pathologic staging. Partial cystectomy was to be performed in patients with initial monofocal lesions who responded to therapy. As the study evolved, many patients who responded to M-VAC underwent clinical restaging only. Clinical response incorporated the results of the CT scan, cytology, and TURB. The overall clinical response rate was 82%. A cCr was attained in 28 of the 65 (43%) patients, and 25 of the 65 (38%) patients attained a cPR; 7 patients (11%) had stable disease, and 5 (8%) had progression. The median follow-up is 36(+) months (6(+)-78(+) months). The overall survival for all patients is 82% at 2 years, and 3 year survival is 73%. Of 65 patients, 44 (68%) were managed with conservative therapy (TURB or partial cystectomy). Of 44, 34 (77%) are alive, 28 (64%) with a functional bladder. Patients who had downstaging of their tumors to absence of disease (TO) or superficial disease have 2 and 3 year survival of 86 and 83%. For patients with muscle-infiltrating tumors after M-VAC, 2 and 3 year survival is 89 and 32%. Of 65 patients treated in this study, 28 (43%) have conserved normal bladder function. Response to chemotherapy may be the most important predictor of survival. Although bladder conservation is feasible in selected patients, they remain at risk for recurrence.

Renal oncocytoma: image diagnostics and therapeutic aspects.

The renal oncocytoma is a solid epithelial neoplasm with a generally benign course. The improved image diagnostics with the computerized tomography (CT) and magnetic resonance imaging (MRI) should today permit the identification of these lesions preoperatively so that conservative rather than radical surgery can be employed, especially in the presence of an early or incidental diagnosis, this latter being always more frequent today. Eighteen patients (9 women and 9 men) with renal oncocytoma are presented. The sizes of the lesions ranged from 1.5 to 12 cm and all were studied by means of ultrasonography, CT and MRI. The MRI was found to be superior to both the ultrasonography and the CT in identifying smaller than 5 cm lesions, presenting typical, homogeneous low-density images in the T1-weighted image sequences which appeared hyperintense in the T2-weighted ones. The presence of a central scar or stellate architecture, the absence of hemorrhage and necrosis and the presence of a pseudocapsule are other elements to differentiate an oncocytoma from a renal carcinoma. These aspects are less characteristic in greater than 5 cm lesions, making the differential diagnosis more difficult. Twelve patients were submitted to a radical nephrectomy and 6 underwent enucleation. The follow-up of the patients (6-74 months) showed a disease-free survival in 17, while one patient died of distant metastases. No local recurrences were observed after conservative surgery which should be considered the treatment of choice in cases of renal oncocytoma with lesions of less than 5 cm.

[Stress osteotomy of the distal radius- and ulna metaphysis (Illarramendi procedure): an alternative treatment method in lunate necrosis]. / Die Reizosteotomie der distalen Radius- und Ulnametaphyse (MRO nach Illarramendi): Eine alternative Behandlungsmethode der Lunatumnekrose.

The etiology of Kienböck's disease is still unknown. Many operative procedures, usually based on biomechanical considerations, are recommended. Based on known effects of core decompression procedures on bone, we present a technique of core decompression of the metaphysis of the distal radius and ulna (MCD) as an easy, alternative biologic treatment. Ten cases with a mean follow-up of 10.8 years are analyzed. All patients had significant postoperative pain relief and returned to their previous activities. At the time of follow-up, comparative motion of flexion-extension of the wrist averaged 74%, mean grip strength was 81% of the nonaffected side. Radiographic follow-up did not slow significant postoperative collapse of the lunate (p > 0.05). No correlation was observed between post-operative results and ulnar variance. MCD is a simple, low-risk procedure. Clinical and radiological outcome supports a theory of biologic rather than biomechanic mechanisms related to fracture healing, that stimulate regeneration of the avascular lunate and relieve symptoms. A primary vascular etiology of idiopathic avascular necrosis of the lunate seems to be likely.