When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista.

The C56R mutation associated with factor XI deficiency has been first evidenced in individuals from the French Basque Country. Genetic investigations revealed that this mutation occurred about 5400 years ago as a founder effect in this zone. Other cases were subsequently described in Southwestern Europe. Noticeably a cluster of cases was evidenced in Yecla, a small city from the province of Murcia, in Southeastern Spain. In correlation with historical sources our genetic data and surname analysis argue for associating this mutation with the migration of people from Western Pyrenees (and more probably from the Navarra province) toward Southeastern Spain during the Reconquista period.

MRI assessment of the importance of the acetabular labrum: a comparative radiographic and MRI study in children's hips.

The aim of this study was to investigate the correlation between radiograph [acetabular index (AI)] and MRI measurements of the angles of children's hips and the percentage of coverage that labrum provides to the acetabulum in healthy hips of children. The healthy hips of 38 children, of a mean age of 7.7 years, were studied using anteroposterior radiographs and coronal plane MRI. We used picture archiving and communication systems software to measure the AI in hip radiographs and the acetabular bone index (ABI) and acetabular labrum index (ALI) in hip MRIs. The Kolmogorov-Smirnov test and t-test were performed. Pearson's correlation and Bland and Altman plots were determined for analysis of measurement error and interobserver and intraobserver errors. Statistical significance was set at P value less than 0.05. Interobserver and intraobserver agreement was between 0.8 and 0.98. AI was 13.7°. ABI was 16.4° and ALI was 6.7°. There was a correlation between the angles of the hips determined by radiographs and MRI. The ALI accounted for 40.8% of the mean value of the ABI. The measurements of hip angles by radiographs were similar to the ones derived from MRI. In addition, the labrum adds stability to the healthy hip in a child, indicating a significant portion of the total coverage of the acetabulum to the femoral epiphysis. AI measurements from radiographs were lower than ABI measurements obtained from MRI. ALI was 41% of the ABI, which means that the labrums, in healthy hips of children significantly increase the coverage of the femoral epiphysis and also increase the stability of the acetabulum. LEVEL OF EVIDENCE: III.

Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

OBJECTIVES: To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. METHODS: An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. RESULTS: Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. CONCLUSION: Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba.

Ultrasound (US) measurement of the distance between the Achilles tendon and the posterior tibial neurovascular bundle in equinus infantile deformity.

OBJECTIVE: To study the distance between the Achilles tendon and the posterior tibial neurovascular bundle via ultrasound (US) - Doppler, with the goal of preventing neurovascular bundle injuries. METHODS: We studied 36 feet with equinus deformity (18 cases on the right and left side) in children with a mean age of 20.9 months. The distance between the Achilles tendon and the posterior tibial artery was intraoperatively measured using linear US at 10 MHz with Doppler. The measurement was made 1 cm proximal to the calcaneus insertion of the Achilles, where we planned to perform the tenotomy. The patient's weight and height were also recorded. Kolmogorov-Smirnov, t test, and Pearson correlation analyses were applied. Statistical significance was defined as p < 0.05. RESULTS: Mean distance between Achilles tendon and posterior neurovascular tibial bundle was 7.3 mm, and no differences between sexes or sides were observed. The distance was significantly correlated with weight (r = 0.54, p = 0.01) but not height or age. CONCLUSIONS: The distance between the Achilles tendon and the tibialis posterior neurovascular bundle is small, and there is a risk of surgical injury during tenotomy of the Achilles tendon.

Aplicabilidad de análogos de la prostaglandina I2 en el tratamiento del síndrome de edema de médula ósea de la cabeza femoral. Caso clínico / Applicability of prostaglandin I2 analogs in the treatment of bone marrow edema syndrome of the femoral head. Clinical case

Objetivo: Mostrar nuestra experiencia con el uso de la prostaciclina en el tratamiento del síndrome de edema de médula ósea de la cabeza femoral. Material y método: Se evalúa retrospectivamente la efectividad de la infusión intravenosa de prostaciclina en un caso clínico de una mujer de 40 años de edad con síndrome de edema de médula ósea de cabeza femoral, con pruebas de imagen (radiografía y resonancia magnética) y escalas analógicas (EVA) y funcionales (Harris). Resultados: Se objetivó la prácticamente plena resolución del edema óseo en resonancia magnética a las seis semanas de la infusión, con mejoría significativa tanto de la escala analógica como de la funcional. En el control clínico y radiográfico a los cuatro meses la paciente estaba asintomática, sin evidencia de osteonecrosis. Conclusión: Los análogos de la prostaglandina I2 podrían tener beneficio terapéutico en los síndromes de malperfusión ósea, si bien son necesarios más estudios para determinar su efectividad real (AU)

Objective: To show our experience with the use of prostacyclin in the treatment of bone marrow edema syndrome of the femoral head. Material and method: We retrospectively evaluated the effectiveness of intravenous infusion of prostacyclin in a case of a 40 year old woman with bone marrow edema syndrome of the femoral head, with imaging techniques (x-ray and MRI), pain scale (VAS) and functional scale (Harris). Results: We achieved nearly complete resolution of bone edema on MRI at seis weeks after infusion, with significant improvement of both the pain and the functional scale. At the clinical and radiographic control after four months the patient is asymptomatic, without evidence of osteonecrosis. Conclusion: Prostaglandin I2 analogues may have therapeutic benefit in bone malperfusion syndromes, although more research is necessary to determine its real effectiveness (AU)

Fractura incarcerada de epitróclea con lesión del nervio cubital / Incarcerated epitrochlear fracture with a cubital nerve injury

Las epifisiólisis de la epitróclea son lesiones relativamente frecuentes, que afectan fundamentalmente a niños entre los 7 y los 15 a˜nos. Las características anatómicas de esta apófisis puede dificultar el diagnóstico en las fracturas mínimamente desplazadas. En un peque˜no porcentaje de casos el fragmento fracturario puede ocupar el surco retroepitroclear. La presencia de disestesias en el territorio del nervio cubital obliga a la reducción abierta urgente del fragmento incarcerado. Se presenta el caso de un paciente varón de 7 a˜nos de edad, que precisó de una revisión quirúrgica por una fractura desplazada de epitróclea asociada a lesión del nervio cubital. Se realiza una revisión de la literatura médica respecto a esta enfermedad (AU)

Injuries of the medial epicondyle are relatively common, mostly affecting children between 7 and 15 years. The anatomical characteristics of this apophysis can make diagnosis difficult in minimally displaced fractures. In a small percentage of cases, the fractured fragment may occupy the retroepitrochlear groove. The presence of dysesthesias in the territory of the ulnar nerve requires urgent open reduction of the incarcerated fragment. A case of a sevenyear- old male patient is presented, who required surgical revision due to a displaced medial epicondyle fracture associated with ulnar nerve injury. A review of the literature is also made (AU)

[Incarcerated epitrochlear fracture with a cubital nerve injury]. / Fractura incarcerada de epitróclea con lesión del nervio cubital.

Injuries of the medial epicondyle are relatively common, mostly affecting children between 7 and 15 years. The anatomical characteristics of this apophysis can make diagnosis difficult in minimally displaced fractures. In a small percentage of cases, the fractured fragment may occupy the retroepitrochlear groove. The presence of dysesthesias in the territory of the ulnar nerve requires urgent open reduction of the incarcerated fragment. A case of a seven-year-old male patient is presented, who required surgical revision due to a displaced medial epicondyle fracture associated with ulnar nerve injury. A review of the literature is also made.

Colorectal serrated adenocarcinoma shows a different profile of oncogene mutations, MSI status and DNA repair protein expression compared to conventional and sporadic MSI-H carcinomas.

Molecular characterization has been extensively studied in serrated polyps but very little is known in serrated adenocarcinomas (SACs). We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H). Our results demonstrate that KRAS are more prevalent than BRAF mutations in SAC (42.7% vs. 25.8%; p = 0.011) being the KRAS-mutated cases even more abundant in SAC displaying adjacent serrated adenomas (51%). G12D and E545K are the most common KRAS and PIK3CA mutations found in SAC, respectively. SAC show higher frequency of MGMT loss compared to CC (50.6% vs. 25.3%; p = 0.001) especially in distal colon/rectum (60.0% vs. 21.6%; p = 0.0009). SAC differ from sMSI-H in terms of KRAS and BRAF mutation prevalence, MSI status and MLH1 expression (p = 0.0003, p < 0.0001, p < 0.0001, p < 0.001, respectively). SACs are more often KRAS-mutated and microsatellite stable and display different molecular and immunohistochemical characteristics compared to CC and sMSI-H.

Coriorretinopatía serosa central en la distrofia viteliforme foveomacular del adulto / Central serous corioretinopathy in adult onset foveomacular vitelliform dystrophy

Caso Clínico: Se presenta el caso clínico de un varón de 30 años con una distrofia foveomacular viteliforme del adulto bilateral simétrica, que de forma simultánea desarrolla una coriorretinopatía central serosa (CRCS) y en el que se aprecia la coexistencia de múltiples puntos blancos en la proximidad de las arcadas vasculares temporales. La angiografía fluoresceínica demuestra la alteración mixta de ambos tipos de fotorreceptores, así como la lesión aguda de la CRCS en el polo posterior OI. Discusión: La distrofia foveomacular del adulto es una alteración hereditaria del polo posterior que no suele evolucionar con complicaciones agudas. La aparición de una coriorretinopatía central no es habitual

Case report: The clinical case of a 30 year-old male patient with a bilateral and symmetric adult-onset foveomacular vitelliform dystrophy is presented. The simultaneous onset of a central serous chorioretinopathy (CSCR) with multiple white dots in the proximity of the temporal vascular arcades is documented. Fluorescein angiography showed a combined alteration of both types of photoreceptors, and the acute lesion of the CSCR at the posterior pole of the eye. Discussion: Adult-Onset Foveomacular Vitelliform Dystrophy is a hereditary condition which results in an alteration of the posterior pole of the eye, but is not usually associated with any acute complications. The onset of a CSCR, as seen in this case, is unusual 2008; 83: 505-508)

[Central serous corioretinopathy in adult onset foveomacular vitelliform dystrophy]. / Coriorretinopatía serosa central en la distrofia viteliforme foveomacular del adulto.

CASE REPORT: The clinical case of a 30 year-old male patient with a bilateral and symmetric adult-onset foveomacular vitelliform dystrophy is presented. The simultaneous onset of a central serous chorioretinopathy (CSCR) with multiple white dots in the proximity of the temporal vascular arcades is documented. Fluorescein angiography showed a combined alteration of both types of photoreceptors, and the acute lesion of the CSCR at the posterior pole of the eye. DISCUSSION: Adult-Onset Foveomacular Vitelliform Dystrophy is a hereditary condition which results in an alteration of the posterior pole of the eye, but is not usually associated with any acute complications. The onset of a CSCR, as seen in this case, is unusual 2008; 83: 505-508).

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer.

Recently, the germline epigenetic inactivation of MLH1 has been reported in a number of patients with early-onset colorectal cancer among other characteristics. The aim of the present study is to evaluate the presence of MLH1 germline epimutations in selected colorectal cancer patients suspected of hereditary non-polyposis colorectal cancer (HNPCC) in order to determine in which patients the MLH1 epigenetic test should be performed. From a total of 109 microsatellite instability (MSI)-positive HNPCC-suspected patients, 11 showed a lack of MLH1 expression in tumor tissue and no germline mutations in the mismatch repair (MMR) genes. In nine of these cases and in three additional patients with multiple tumors, the study of the germline MLH1 promoter hypermethylation was performed by means of methylation-specific PCR and combined bisulfite-restriction analysis techniques. One of the selected patients resulted positive for the MLH1 epimutation, which was confirmed in the DNA extracted from buccal lavage. The patient with the epimutation had developed an epidermoid lip carcinoma and an early-onset colorectal tumor with MSI, no MLH1 expression, and loss of heterozygosity of the gene. Parents and siblings did not carry the epigenetic alteration, suggesting a de novo mechanism. Although germline MLH1 epimutations seem to be mostly uncommon, when the cases are well selected, the probability of finding them increases. Thus, taking into account ours and previous reports, we propose that screening for MLH1 epimutations in blood DNA could be performed in early-onset colorectal cancer patients with MSI, lack of MLH1 expression in the tumor, and no germline mutations in the MMR genes.

[Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family]. / Pancreatitis hereditaria causada por una nueva mutación en el gen del tripsinógeno. Presentación de una familia.

Hereditary pancreatitis is an uncommon autosomal dominant disease secondary to a mutation normally located in the trypsinogen gene, preventing trypsin deactivation. This mutation translates clinically into recurrent attacks of acute pancreatitis and an increased risk of pancreatic cancer. We report a case of acute hereditary pancreatitis due to a trypsinogen mutation that has previously been described in only one family.

Pancreatitis hereditaria causada por una nueva mutación en el gen del tripsinógeno. Presentación de una familia / Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family

La pancreatits hereditaria es una rara condición de carácter autosómico dominante secundaria a una mutación normalmente localizada en el gen que codifica el tripsinógeno, lo que da lugar a la síntesis de una tripsina no autoinactivable. Este hecho se traduce clínicamente en pancreatitis agudas de repetición junto a un mayor riesgo de cáncer de páncreas. Presentamos un caso de pancreatitis aguda hereditaria por una mutación del tripsinógeno sólo descrita en una familia con anterioridad (AU)

Hereditary pancreatitis is an uncommon autosomal dominant disease secondary to a mutation normally located in the trypsinogen gene, preventing trypsin deactivation. This mutation translates clinically into recurrent attacks of acute pancreatitis and an increased risk of pancreatic cancer. We report a case of acute hereditary pancreatitis due to a trypsinogen mutation that has previously been described in only one family (AU)

Adenoma hepático gigante en varón de 64 años / Giant liver-cell adenoma in a 64 years old male

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Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.

Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis, caused by a partial deficiency of hydroxymethylbilane synthase (HMBS). Knowledge of the nature of the HMBS mutations causing AIP in Spanish families is very limited. Here we report a novel 669_698del of the HMBS gene in twenty-two individuals from five independent Spanish AIP families, settled in Murcia (southeastern region of Spain). All mutation carriers shared a common disease associated haplotype indicating an ancestral founder effect. Identification of the 669_698del founder mutation allowed rapid and simple molecular diagnosis of AIP in families from this region in Spain. In addition, 771 + 58C>T in intron 12 on the non-669_698del allele was identified in six AIP patients, which promoted homozygous AIP misdiagnosis.

[Palliative surgical treatment of spastic paralysis in the lower extremity]. / Cirugía paliativa de la parálisis espástica en las extremidades inferiores.

AIMS: The purpose of this paper is to describe our experience with and to review the best results in the surgical treatment of patients suffering from spastic paralysis of the lower limbs. DEVELOPMENT: To enable a correct indication of the techniques to be employed the authors recommend a thorough examination of the types of deformity (fixed, dynamic or mixed) and the use of specific tests for exploring the different deformities. These are necessary steps to be able to interpret the different disorders in a global manner and thus reach diagnostics that provide us with a proper surgical therapeutic orientation about the spastic hip, knee, ankle and foot. Due to the importance of the overall problem, it is becoming increasingly more frequent to advise multidisciplinary work involving the collaboration of different specialists (neurologists, rehabilitators, physiotherapists, psychologists, paediatricians, neurophysiologists and orthopaedic surgeons). Spasticity is as heterogeneous as the results of the different treatment projects. The techniques used must allow the rehabilitation therapy to be continued. Surgical intervention is recommended when the damage to the CNS has stabilised and the patient is over 4 years old. The psychic state of the patient and the family must also be evaluated. CONCLUSIONS: The objective of the treatment in patients who can walk is to improve motor functioning, the type of gait and to prevent fixed deformities from developing. In patients who do not walk, the aim is to improve their hygiene and their capacity to sit and to walk. These indications are indispensable to be able to successfully perform a little-known area of orthopaedic surgery which does not respond to the techniques used in flaccid paralysis surgery.

[Palliative surgical treatment of spastic paralysis in the upper extremity]. / Cirugía paliativa de la parálisis espástica en las extremidades superiores.

AIMS: In this paper we review the main studies conducted on therapy applied to the bony and soft parts in spastic paralysis of the upper extremity. DEVELOPMENT: Spasticity presents muscular hypertonia and hyperexcitability of the stretch reflex, which are typical of upper motoneuron syndrome. Physiopathologically, spasticity is due to the medullar and supramedullar alteration of the afferent and efferent pathways. Treatment is multidisciplinary and involves the collaboration of rehabilitators, neurophysiologists, neurologists, paediatricians, orthopaedic surgeons and psychologists, who all contribute with their different therapeutic aspects and characteristics (which can be pharmacological, peripheral neurological blockages, surgical, etc.). The characteristic posture of the upper extremities in spastic cerebral palsy is the inward rotation of the shoulder, flexion of the elbow and pronated forearm, and the deformity of the fingers (swan-neck and thumbs-in-palm). The primary objectives in these patients will be to improve communication with their surroundings, perform activities of daily living, increase mobility and walking. CONCLUSIONS: The surgical treatment applied by orthopaedic surgeons in the upper extremities are aimed at achieving an enhanced adaptive functionality rather than morphological normality. Factors to be taken into account include age, voluntary control over muscles and joints, level of severity of the spasticity (Ashworth scale) and stereognostic sensitivity. In general, on soft parts we will use procedures such as dehiscence or lengthening of the flexor muscles of the shoulder and elbow or of the adductor of the thumb; transfer of the pronators in order to adopt the supinating function or of the flexors so as to reinforce the extensors of the forearm, and capsulodesis or tenodesis in the hand. The bony procedures will consist in derotational osteotomies of the humerus and radius and arthrodesis in the wrist or in the metacarpophalangeal joints of the thumb, depending on whether there is greater rigidity or age in the former cases or instability in the latter.