Patellofemoral ankylosis: case report and technical note.

INTRODUCTION: It is our understanding that there is no consensual solution for the treatment of post-traumatic patellar ankylosis; therefore, the purpose of this work is to present two cases of patellofemoral retinacular interposition arthroplasty, and its corresponding technical note. CASE 1: Female, 24, patellar ankylosis secondary to supratranscondylar fracture, associated with comminuted diaphyseal tibia fracture. CASE 2: Female, 48, patellar ankylosis secondary to femoral diaphysis and lateral femoral condyle fracture. RESULTS: After going through a patellofemoral retinacular interposition release, both patients were satisfied with the results, presenting with significantly improved knee range of motion. CONCLUSION: Using our surgical technique, we were not able to restore normal function to our patients, but their improvement was certainly impressive relative to their initial clinical situation.

Variáveis maternas e paternas nas síndromes cromossômicas encontradas na base de dados do estudio colaborativo Latino Americano de Malformaciones Congénitas / Maternal and paternal variables in chromosomal syndromes found in the data base of the estudio colaborativo Latino Americano de Malformaciones Congénitas –Latin American Collaborative Study of Congenital Malformations

Síndromes cromossômicas são raras, porém graves e, em geral, de prognóstico reservado, o que vai ao encontro da necessidade de uma maior investigação a respeito das suas prováveis etiologias. O objetivo desse estudo é comparar os resultados a partir da base de dados do Estudo Colaborativo Latino-Americano de Malformacões Congênitas (ECLAMC) em nascidos vivos (NV) do Complexo Hospitalar da Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA) com aqueles já descritos e, a partir disso, considerar hipóteses causais para essas síndromes. Métodos: Estudo de caso-controle, com dados de obtidos através dos questionários do banco de dados do ECLAMC da maternidade do ISCMPA. Caso foi definido como recém-nascidos RN com qualquer anormalidade morfológica detectada ao nascimento. Todos os casos NV foram pareados com um controle, não malformado e de igual sexo que nasceu no mesmo hospital imediatamente depois do recém-nascido malformado. Resultados: Em um total de 259 RNs malformados (MF), foram encontrados 18 com malformações cromossômicas, sendo 16 com Síndrome de Down, 1 com Síndrome de Turner, e 1 com Síndrome de Pierre Robin. Dentre as variáveis analisadas, observou-se que RN vivos com malformações cromossômicas possuíam peso menor (P=0,002), eram em número maior de meninas (P<<0,01), nasceram com idade gestacional menor (P=0,043), possuíam pais com idade maior (P<<0,01 para mães e P=0,012 para pais) e mães que fumaram (P<<0,01) e beberam mais álcool (P=0,011) mais, que o grupo controle. Conclusão: As variáveis materno-paterno-dependentes parecem influenciar o número de RN que apresentam anomalias cromossômicas.

Although chromosomal syndromes are rare, they are serious and generally of poor prognosis, which meets the need for more research about their probable etiologies. The aim of this study is to compare the results from the database of the Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) - Latin American Collaborative Study of Congenital Malformations in live-born infants (LBI) of the Hospital Complex of the Santa Casa de Misericordia of Porto Alegre (ISCMPA) with those already described and, from there, consider causal hypotheses for these syndromes. Methods: A case-control study with data obtained from questionnaires of the ECLAMC database in the Maternity Hospital of ISCMPA. A case was defined as a newborn (NB) with any morphological abnormalities detected at birth. All cases were matched with a non-malformed control of the same sex born in the same hospital immediately after the malformed NBs. Results: From a total of 259 malformed (MF) NBs, 18 had chromosomal malformations, 16 of which Down Syndrome, 1 Turner Syndrome, and 1 Pierre Robin Syndrome. Among the variables analyzed, we found that LBI with chromosomal abnormalities had lower weight (p = 0.002), were more likely females (p <<0.01), were born at lower gestational age (p = 0.043), and were born to older parents (p <<0.01 for mothers and p = 0.012 for fathers) and more likely to mothers who smoked (p <<0.01) and drank (p = 0.011) than the control group. Conclusion: The maternal-paternal-dependent variables seem to influence the number of NBs who have chromosomal abnormalities.

Phosphorylation of conserved PIN motifs directs Arabidopsis PIN1 polarity and auxin transport.

Polar cell-to-cell transport of auxin by plasma membrane-localized PIN-FORMED (PIN) auxin efflux carriers generates auxin gradients that provide positional information for various plant developmental processes. The apical-basal polar localization of the PIN proteins that determines the direction of auxin flow is controlled by reversible phosphorylation of the PIN hydrophilic loop (PINHL). Here, we identified three evolutionarily conserved TPRXS(N/S) motifs within the PIN1HL and proved that the central Ser residues were phosphorylated by the PINOID (PID) kinase. Loss-of-phosphorylation PIN1:green fluorescent protein (GFP) (Ser to Ala) induced inflorescence defects, correlating with their basal localization in the shoot apex, and induced internalization of PIN1:GFP during embryogenesis, leading to strong embryo defects. Conversely, phosphomimic PIN1:GFP (Ser to Glu) showed apical localization in the shoot apex but did not rescue pin1 inflorescence defects. Both loss-of-phosphorylation and phosphomimic PIN1:GFP proteins were insensitive to PID overexpression. The basal localization of loss-of-phosphorylation PIN1:GFP increased auxin accumulation in the root tips, partially rescuing PID overexpression-induced root collapse. Collectively, our data indicate that reversible phosphorylation of the conserved Ser residues in the PIN1HL by PID (and possibly by other AGC kinases) is required and sufficient for proper PIN1 localization and is thus essential for generating the differential auxin distribution that directs plant development.