Darter fishes exhibit variable intraspecific head shape allometry and modularity.

Allometry, the relationship between anatomical proportions and body size, may either limit or facilitate the diversification of morphology. We examined the impact of allometry in darter fish morphology, which displays a variety of trophic morphologies. This study aimed to address (a) whether there was significant variation in darter head allometry, (b) if allometry contributed to head shape diversity in adults, and (c) if darters show head shape modularity associated with allometry. We used geometric morphometrics to quantify head shape across 10 different species and test for heterogeneity in allometric slopes. In addition, we quantified the degree of modularity between the preorbital and postorbital regions of the darter head, both before and after correction for body size. We found that different species have unique allometric slopes, particularly among the Simoperca subgenus, and that closely related darter species tend to show ontogenetic divergence, contributing to the diversity of head shapes observed in adults. We suggest that such a pattern may result from the similarity of juvenile diets due to gape limitation. We also found that several species show significant modularity in head shape but that modularity was evolutionarily labile and only sometimes impacted by head shape allometry. Overall, our work suggests that ontogenetic shape development may have been important to the evolution of head shape in darters, particularly in the evolution of foraging traits and microhabitat.

A review of seasonality of cleft births - The Brazil experience.

AIMS: Evaluate the seasonal influence in nonsyndromic cleft lip and/or palate (NSCL/P) in Brazilian patients. METHODS: A case-control study, with 361 unrelated patients with NSCL/P and 481 healthy individuals, was done on a reference service for craniofacial deformities in Minas Gerais State, Brazil. Information was collected from clinical records considering gender, month of birth, as well as with the seasons. RESULTS: Nonparametric tests did not show a seasonal variation in month of birth and in seasons of year of NSCL/P compared to a control group (p = 0.902 and p = 0.679, respectively). A difference in births between the groups was identified only in January, however, was not significant. Moreover, among the control group there were more births in the months of February and August, and for the cleft group, more in July and August. The males were more affected by cleft lip with or without palate (CLP) and the females by isolated cleft palate (CP) manifestation. The ratio of CL:CLP:CP indicated that CLP was predominant when compared with CL and CP, CLP was more frequent in male patients, and CP predominance was seen in females. CONCLUSION: This study did not show seasonal differences in births on NSCL/P in a Brazilian group, emphasizing that environmental factors may be related to oral clefts. These results provide a basis for further epidemiological studies of orofacial clefts in Brazil.

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family

BACKGROUND: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. MATERIAL AND METHODS: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. RESULTS: The pedigree of the family, including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. CONCLUSIONS: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1

Evaluating fluctuating asymmetry in a Brazilian population with non-syndromic cleft lip and/or palate.

OBJECTIVE: The objective of this work was to analyse the levels of dermatoglyphic asymmetry between both parents and individuals with non-syndromic cleft lip and/or palate (NSCL/P) and unaffected control trios. METHODS: A case-control analysis was carried out of 51 affected trios (unaffected parents and NSCL/P subjects), and 50 unaffected control trios. Finger and palm prints were taken from each participant, and dermatoglyphic patterns, the number of lines on the digits, and the palmar angles were recorded. To determine the level of fluctuating asymmetry the case group was compared with the control group, significance accepted at p ≤ 0.05. RESULTS: There was a statistically significant difference between the atd angles (angle between the lines triradii a and t and triradii t and d) of fathers of those affected by NSCL/P, and the dermatoglyphic patterns of the affected mothers, with significantly more arches in the control group. However, in this study, multiple comparisons were used, and the results must be evaluated as initial findings and evaluated carefully since the significance disappears after correction for multiple comparisons. Other parameters did not differ between groups. There was no difference in parameters among patients affected by NSCL/P. CONCLUSIONS: Based on these results it is speculated that the mechanisms responsible for the formation of NSCL/P may be associated with those responsible for deviations in the asymmetry of the atd angles in the fathers and dermatoglyphic patterns of the mothers of affected patients. Besides, further studies are required to determine the real relationship between these conditions.

Uncommon oral cleft in Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

A síndrome de Wolf-Hirschhorn (WHS) é uma condição genética caracterizada por anomalias craniofaciais e sistêmicas, causada por deleção cromossômica na região 4p. Paciente de 3 meses de idade, gênero feminino, foi encaminhada para avaliação de fissura de lábio e fissura palatina, associada a uma síndrome não diagnosticada. A paciente apresentava-se com hipotonia, baixa estatura, malformação cardíaca, clitóris hipertrofiado e implantação atípica do polegar nas duas mãos. Microcefalia, baixa implantação da orelha, glabela proeminente, inclinação baixa das fissuras palpebrais, aparência característica de capacete de guerreiro grego, micrognatia, fossetas em orelhas, fissura labial bilateral incompleta e fissura palatina incompleta foram observadas como características craniofaciais. Com um diagnóstico clínico de WHS, foi realizado o cariótipo, que mostrou a deleção 4p15.2, consistente com a condição. Esse relato de caso apresenta um caso de WHS, com uma fissura oral incomum, ampliando o espectro fenotípico da doença. A paciente foi encaminhada a tratamento com equipe multidisciplinar para correção cirúrgica da fissura labial e palatina. Encontra-se em acompanhamento médico bem como odontológico, fisioterapêutico e em terapia ocupacional e psicológica. Uma correlação entre genótipo e fenótipo pode ser observada nesse relato da síndrome de WHS.

Immunoexpression of á2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities

Objective: The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingiva (NG). Study Design: Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens from two unrelated families with hereditary gingival fibromatosis (Families 1 and 2) and from one family with a gingival fibromatosis-associated dental abnormality (Family 3); NG samples were used for comparison. The results were analysed statistically. Results: Immunoreactivity for α2-integrin and Hsp47 was observed in the nucleus of epithelial cells of both the basal and suprabasal layer and a more discreet signal was noted in connective tissue in all study samples. Hsp47 showed higher immunoreactivity in Family 2 compared with the other families (p≤0.05). Despite the markup α2-integrin was higher in Family 3 there was no statistically significant difference between the families studied (p≥0.05). Conclusions: Our results confirmed the heterogeneity of GF, such that similar patterns of expression of the condition may show differences in the expression of proteins such as Hsp47. Although no difference in α2-integrin expression was observed between GF and NG groups, future studies are necessary to determine the exact role of this protein in the various forms of GF and whether it contributes to GF pathogenesis (AU)

No disponible

Immunoexpression of α2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities.

OBJECTIVE: The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingival (NG). STUDY DESIGN: Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens from two unrelated families with hereditary gingival fibromatosis (Families 1 and 2) and from one family with a gingival fibromatosis-associated dental abnormality (Family 3); NG samples were used for comparison. The results were analysed statistically. RESULTS: Immunoreactivity for α2-integrin and Hsp47 was observed in the nucleus of epithelial cells of both the basal and suprabasal layer and a more discreet signal was noted in connective tissue in all study samples. Hsp47 showed higher immunoreactivity in Family 2 compared with the other families (p ≤ 0.05). Despite the markup α2-integrin was higher in Family 3 there was no statistically significant difference between the families studied (p ≥ 0.05). CONCLUSIONS: Our results confirmed the heterogeneity of GF, such that similar patterns of expression of the condition may show differences in the expression of proteins such as Hsp47. Although no difference in α2-integrin expression was observed between GF and NG groups, future studies are necessary to determine the exact role of this protein in the various forms of GF and whether it contributes to GF pathogenesis.

Intraoperative use of mitomycin C in the treatment of recurrent pterygium.

The prevalence rate of pterygium in Papua New Guinea (PNG) is as high as 15%. Recurrence rates up to 50% are encountered after primary excision. In a country such as PNG where resources in terms of funds and manpower are limited, a simple procedure had to be identified to reduce this alarmingly high rate of pterygium recurrence. This article compares the results of a randomized masked study involving the single intraoperative application of 0.02% mitomycin C solution in 65 eyes undergoing surgery for recurrent pterygium using the bare sclera technique with a similar group of 65 patients in which the drug was not used. The results indicate that a single intraoperative application of mitomycin C solution was enough to reduce the recurrence rate of pterygium to 3% in the treated group as compared to 48% in the untreated group at the end of a 12-month follow-up. In the study it was also seen that, in PNG, pterygia were more common in females and that recurrences tended to occur early and were obvious in the first few weeks following surgery.

Social and familial risk factors in suicidal behavior.

The focus of this article is on the presence or absence of external and constraining social facts, as reflected in indicators like divorce rate, marital status, the number of close friends, loss of crucial significant others, or sometimes having no one who cares if the person lives or dies, feelings of shame or intolerable guilt, the belief of sacrificing one's life for a higher cause or another person, and military suicide. This article reviews the history of the sociology of suicide, social isolation, contagion, imitation, suicide clusters, stress, and negative life events.

Social suicide.

At first blush suicide seems like the ultimate private action. However, it is argued that social forces and social pathologies figure prominently in the dynamics of suicide interacting with more individual characteristics. Several examples of "social suicide" (intentional cotemporaneous self-murder of two or more persons) are considered, including mass suicide, organizational self-destruction, social analogues to individual suicide, and military suicide. Suicide prevention requires social, economic, and cultural transformations at the primary prevention level, not just individual psychotherapy and dispensing of the latest antidepressants.

Beyond the Tower of Babel: a nomenclature for suicidology.

Suicidology finds itself confused and stagnated for lack of a standard nomenclature. This paper proposes a nomenclature for suicide-related behavior in the hope of improving the clarity and precision of communications, advancing suicidological research and knowledge, and improving the efficacy of clinical interventions.

The prevention of suicidal behaviors: an overview.

The authors discuss the development of the concept of prevention as it has evolved from the public health and mental health fields. Concepts of epidemiology, treatment, and community mental health are defined in terms of their contributions to the evolution of prevention thinking. Four models of prevention are presented and critiqued: the public health model, the operational model, the antecedent conditions model, and the injury control model. Essential ingredients for implementing effective preventive interventions are presented, as well as examples of practical preventive interventions.

Suicide prevention in adults (age 30-65).

Relatively little is known about midlife suicides, compared to adolescent and elderly suicides. A life-span model of suicidal behaviors is suggested as a heuristic conceptual tool. General midlife tasks and crises, as outlined by Levinson and Erikson, are reviewed. However, more than routine midlife developmental problems occur in most suicides. Some of the possible distinctive traits of midlife suicides (versus younger and older suicides) include: loss of spouse, years of heavy drinking, reaching the age of high depression risk, and occupational problems (including unemployment, inability to work, and retirement). Midlife suicide rates tend to be highest among white males, although female suicide rates peak in midlife. The paper concludes with a review of assessment and treatment issues related to a half-dozen high-risk midlife suicide types.

Inpatient standards of care and the suicidal patient. Part II: An integration with clinical risk management.

The authors elaborate on the standards of care for the assessment, management, and treatment of hospitalized suicidal patients. The authors attempt to synthesize the concepts of the minimal standard of care with clinical risk management and clinical judgment. They point out the areas of overlap and where optimum care diverges from legal standards of care. Case examples are provided to illustrate major areas of concern. Alleged failures of omission and commission are discussed. Tables are provided that differentiate duties and responsibilities between and among clinicians, hospital staff, and hospital administration.

Inpatient standards of care and the suicidal patient. Part I: General clinical formulations and legal considerations.

The most common legal action involving psychiatric care is the failure to reasonably protect patients from harming themselves. In this regard it is critical to understand that courts have tended to impose much stricter standards on inpatient than on outpatient care; that at the present time, most malpractice actions involve clinical activities related to inpatient care (negligent admission, treatment, supervision, discharge, etc.). This article reviews the current climate in the legal and clinical formulation of standards of care for hospitalized adult suicidal patients. It suggests general guidelines for effective assessment, management, and treatment procedures that balance the need for high-quality care by a reasonable and prudent practitioner with the requirements of court-determined and statutory standards. The authors specifically discuss court cases that show common failure situations in inpatient care, discharge planning, and follow-up (e.g., problems in pharmacotherapy, the decision to hospitalize, the assessment of imminence and lethality, etc.). The paper also emphasizes the crucial element of clinical judgment in developing any inpatient standard of care.

Outpatient standards of care and the suicidal patient.

This article is a review of the legal and clinical literature on standards of care for nonhospitalized adult suicidal patients. The authors discuss effective assessment, management and treatment procedures that balance the need for high-quality care by a reasonable and prudent practitioner with the requirements of court-determined and statutory standards. Through a review of malpractice claims data and through an examination of the clinical literature we detail the essential guidelines for sound assessment, intervention, and management procedures. The authors specifically discuss common failure situations in outpatient care (e.g., problems in pharmacotherapy, the decision to hospitalize, inappropriate and dual relationships, the assessment of imminence and lethality, and so on). Details regarding practical considerations in developing an outpatient standard of care are provided, as are suggestions that such a standard of care must include an ongoing assessment of the therapeutic alliance.