RESUMO
A female infant survived 5(1/2) hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1-->2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1-->2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 2 , Holoprosencefalia/genética , Feminino , Holoprosencefalia/diagnóstico , Humanos , Recém-Nascido , CariotipagemRESUMO
OBJECTIVE: To assess the efficacy of 10% formalin perfusion fixation as a method of rapid fixation to examine the human brain immediately following autopsy. DESIGN: Compare the histology and immunohistochemistry from human brains in which one hemisphere undergoes perfusion fixation using 10% buffered formalin, and the contralateral nonperfused hemisphere undergoes standard 14-day immersion fixation in 8 L of 10% buffered formalin. SETTING: Autopsy material in a general medical-surgical university hospital. PARTICIPANTS: Pathologists, neuropathologists, resident pathologists, and pathology assistants. INTERVENTION: Immediately following brain removal, a single hemisphere was perfused with 1 L 10% buffered formalin over a 15- to 20-minute period. The contralateral nonperfused hemisphere served as a control, undergoing standard immersion fixation for 2 weeks in 10% formalin. The perfusion-fixation hemisphere was immediately available for neuropathologic examination, and histologic sections of the brain were processed immediately with the other necropsy tissue sections. This allows completion of a final autopsy neuropathology report within 3 to 5 days in concert with the systemic section of the report. MAIN OUTCOME MEASURE: Perfusion-fixation brain sections were compared with immersion-fixation brain sections from the same brain. The effects on hematoxylin-eosin, Bielschowsky's silver, and immunohistochemical staining were evaluated by an experienced neuropathologist and a general pathologist with no prior knowledge of the fixation technique. RESULTS: Perfusion fixation revealed equal and occasionally superior histologic sections compared with traditional immersion fixation in terms of (1) technical preparation of section, (2) quality and intensity of staining with both hematoxylin-eosin and silver, and (3) immunoreactivity localization with a variety of immunohistochemical reactions. CONCLUSIONS: Immediate perfusion of the brain is an easily performed fixation technique that yields comparable or superior fixation to prolonged immersion fixation and allows an immediate complete neuropathologic examination and report within 3 to 5 days of performance of the autopsy.
Assuntos
Encéfalo/patologia , Perfusão/métodos , Fixação de Tecidos/métodos , Idoso , Idoso de 80 Anos ou mais , Soluções Tampão , Corantes , Método Duplo-Cego , Amarelo de Eosina-(YS) , Feminino , Corantes Fluorescentes , Formaldeído , Hematoxilina , Humanos , Imersão , Imuno-Histoquímica , Masculino , Coloração pela Prata , Coloração e RotulagemRESUMO
A case is presented of a euthyroid male in whom a right thyroid mass was discovered. Physical displacement of the right thyroid lobe by a mass determined on CT scan. Scintigraphy and ultrasound showed the mass to be separate from the thyroid. Fine needle aspirations did not predict the tumor. Surgical removal of an adult rhabdomyoma was uneventful. This case and review of the literature demonstrate the rare presentation of a rhabdomyoma as a suspected thyroid nodule.
Assuntos
Neoplasias Musculares/diagnóstico , Neoplasias Musculares/patologia , Rabdomioma/diagnóstico , Rabdomioma/patologia , Nódulo da Glândula Tireoide/diagnóstico , Erros de Diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/cirurgia , Rabdomioma/cirurgiaRESUMO
We report the clinical, pathologic, and immunohistochemical features of a severe hypertensive patient with recurrent migraine-induced hypotension. The patient died of migraine-induced vasomotor paralysis despite prompt institutions of fluid and sympathomimetic and parasympatholytic agents. Postmortem study revealed autonomic ganglionitis and neuritis.
Assuntos
Gânglios Autônomos/patologia , Hipertensão/patologia , Hipotensão/patologia , Transtornos de Enxaqueca/patologia , Neurite (Inflamação)/patologia , Adulto , Humanos , Imuno-Histoquímica , MasculinoRESUMO
Cysts of the adrenal gland are rarely encountered in clinical practice. Presenting signs and symptoms are variable. We present a case of an active 46 year old white female with six months history of left flank pain who was found to have a large lymphangiomatous cyst of the left adrenal gland. Curative resection of the cyst and left adrenalectomy were performed with preservation of the left kidney. We include a review of the literature.
Assuntos
Doenças das Glândulas Suprarrenais/diagnóstico , Cistos/diagnóstico , Doenças das Glândulas Suprarrenais/classificação , Doenças das Glândulas Suprarrenais/cirurgia , Adrenalectomia , Cistos/classificação , Cistos/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To develop a system for enhancing the performance and reporting of autopsies in an effective and clinically useful manner. DESIGN: Twelve steps were defined as essential for the completion of the autopsy. Each step of the process was evaluated for usefulness and effectiveness. SETTING: Autopsies performed in a university hospital from 1992 through 1994. PARTICIPANTS: Pathology residents and staff, clinicians, and clinical team house staff. INTERVENTION: Participants followed the 12-step process, with emphasis on involving the clinical team in the interview, prosection, and final rounds. The final rounds conference was designated a working conference, where the perfused-fixed brain was cut, histologic sections of the case were submitted, and the provisional diagnosis was written with the clinicians. A next-day microscopic slide review session was scheduled to "sign out" the case. Establishing a philosophy of status equal to all other department functions facilitated implementation. MAIN OUTCOME MEASURE: All autopsies performed for a period of 3 years (2 retrospective and 1 prospective) were included. RESULTS: The autopsy completion time was reduced from a mean of 57 days (range 7 to 174) in 1992 to 4.8 days (range 1 to 16) in 1994. CONCLUSION: The autopsy completion time was reduced, increasing its usefulness for teaching and quality assurance. Relationships with the clinical staff were enhanced with consultation-style final reports. Enthusiasm for, and satisfaction with, the new process was expressed by clinicians, pathology staff, residents, and technical support staff.
Assuntos
Autopsia/normas , Prontuários Médicos/normas , Humanos , Internato e Residência , Estudos Prospectivos , Estudos Retrospectivos , Fatores de TempoRESUMO
Ethanol alters cellular growth and maturation, teratologic factors that are recognized as contributing to abnormal phenotypic expression. Cultured neonatal Sprague-Dawley rat cardiac myocytes were utilized to determine how ethanol alters growth and development. Two ethanol exposure paradigms were studied: (1) constant, to cultures in closed chambers for 7 days at low (10 mM) and high (50 mM) concentrations; and (2) periodic (24-hr) to cells during hyperplastic growth. In constantly exposed cultures, 10 and 50 mM ethanol concentrations depressed the rate of leucine incorporation and the rate of thymidine uptake during early hyperplastic growth (log phase growth). A resultant slower expansion of cell populations was noted. Although the period of maximum vulnerability appeared to be the hyperplastic growth phase, a second set of experiments using 10 and 50 mM ethanol were performed to assess the effects of short (24-hr) exposures. DNA synthesis was depressed during early hyperplastic growth compared with controls (days 2-4), reflected as a decrease in thymidine incorporation and smaller cell population. This study demonstrates that ethanol depresses both DNA and protein synthesis during hyperplastic growth resulting in an insufficient, protein-deficient cell mass, incapable of participating in normal embryogenesis.
Assuntos
Cardiomiopatia Alcoólica/patologia , Diferenciação Celular/efeitos dos fármacos , Divisão Celular/efeitos dos fármacos , Etanol/toxicidade , Transtornos do Espectro Alcoólico Fetal/patologia , Animais , Animais Recém-Nascidos , Diferenciação Celular/fisiologia , Divisão Celular/fisiologia , Células Cultivadas , DNA/biossíntese , Relação Dose-Resposta a Droga , Feminino , Masculino , Miocárdio/patologia , Gravidez , Biossíntese de Proteínas , RatosRESUMO
The development of an in vitro cardiogenesis model was designed to enhance our understanding of the mechanism(s) of ethanol teratogenicity. Growth and development events in the model are similar to in vivo events. Time-specific and event-specific windows of biokinetic activities during both hyperplastic and hypertrophic growth are easily controlled and independently investigated. Systematic study of the effects of ethanol on the embryogenesis model, from committed blast cells to mature, functioning cells was accomplished to determine at what stage or stages of the growth and development paradigm ethanol exerts its teratogenic potential. Using the model and comparing the data to in vivo ethanol exposures, it appears that ethanol impairs the capability of the cell to properly propagate and mature.
Assuntos
Etanol/toxicidade , Cardiopatias Congênitas/induzido quimicamente , Coração/efeitos dos fármacos , Animais , Diferenciação Celular/efeitos dos fármacos , Divisão Celular/efeitos dos fármacos , Modelos Animais de Doenças , Feminino , Transtornos do Espectro Alcoólico Fetal/etiologia , Transtornos do Espectro Alcoólico Fetal/patologia , Coração Fetal/efeitos dos fármacos , Coração Fetal/patologia , Coração/embriologia , Cardiopatias Congênitas/patologia , Microscopia Eletrônica , Miocárdio/ultraestrutura , Gravidez , Ratos , Ratos Sprague-DawleyRESUMO
Alteration of growth and development of cells exposed to ethanol during embryogenesis contributes to dysmorphism. The mechanism(s) of these alterations remains an enigma. This paper describes studies of an in vitro cardiac myocyte model in which the major effort was to investigate growth and development parameters in an obligate interacting multicellular system. The well defined events of in vitro myogenesis allow for documentation or dysgenesis and altered growth in the presence of the taratogen, ethanol. The cells exposed to ethanol did not mature morphologically or functionally compared with controls. Increasing concentrations of ethanol appear to have a graded damaging effect. The greater the concentration of ethanol the more profound the dyssynchronous growth. The morphologic correlates were multinucleation, and alteration in the ultrastructural organization of cell-cell contacts and myofilaments. Correlation of these findings with those observed in dysgenic muscle of human infants and rat pups exposed to ethanol in utero, may provide at least a partial understanding of the teratogenic manifestation of ethanol in embryogenesis and organogenesis.
Assuntos
Diferenciação Celular/efeitos dos fármacos , Divisão Celular/efeitos dos fármacos , Etanol/toxicidade , Transtornos do Espectro Alcoólico Fetal/patologia , Miocárdio/citologia , Animais , Contagem de Células/efeitos dos fármacos , Células Cultivadas , Relação Dose-Resposta a Droga , Imunofluorescência , Junções Intercelulares/efeitos dos fármacos , Junções Intercelulares/ultraestrutura , Microscopia Eletrônica , Contração Miocárdica/efeitos dos fármacos , Contração Miocárdica/fisiologia , Miofibrilas/efeitos dos fármacos , Miofibrilas/ultraestrutura , Coelhos , Ratos , Ratos EndogâmicosRESUMO
We conducted a survey of the effect of chitosan on wounds of the genitourinary system in dogs. Wounds were made in the kidney, ureter and penile foreskin. Chitosan caused no adverse effects on urogenital wound healing. A decrease in fibrosis was seen in the wounds treated with chitosan in all tissues studied. These observations suggest that the morbidity of urogenital surgery may be decreased by treating the wounds with chitosan.
Assuntos
Quitina/análogos & derivados , Sistema Urogenital/lesões , Cicatrização/efeitos dos fármacos , Animais , Quitina/uso terapêutico , Quitosana , Cães , Estudos de Viabilidade , Rim/lesões , Rim/patologia , Masculino , Pênis , Pele/lesões , Ureter/lesões , Ureter/patologia , Sistema Urogenital/patologia , UrografiaRESUMO
The accuracy and consistency of the delivery of ethanol to cultured cells is important to determine effects on morphologic, biochemical and physiologic alterations. Open and closed chamber systems were evaluated to determine cytotoxic vs sublethal, potentially teratogenic effects on neonatal rat cardiac myocytes. The open system employed a variety of cell culture vessels. Cardiac cells were exposed directly to ethanol in the growth media at concentrations of 5-50 mM in Petri dishes, multiwell slides and multiwell chambers. Ethanol concentrations in the media in these open vessels decreased over 60% in a 24 hr incubation period. A closed system consisted of tightly sealed plastic containers in which the same vessels were used. The vessels were placed on a platform over a bath of ethanol-water. Cells were acclimated for 24 hr with ethanol in the bath at 200% of the final desired media concentration. Ethanol gradually diffused into the media to reach peak levels of 5, 10, 25 or 50 mM at 24 hr. After the 24 hr period, ethanol was added to both the media and bath at the desired concentration. Cells exposed gradually to ethanol in the closed chambers remained viable, but showed slower division and growth. A period of gradual acclimation is required to induce sublethal cellular effects rather than lethal effects. The diversity of cell systems and manipulations of cultures to study the potential teratogenic effects of ethanol are improved using such a closed chamber system.
Assuntos
Cultura em Câmaras de Difusão , Etanol/administração & dosagem , Animais , Contagem de Células/efeitos dos fármacos , Diferenciação Celular/efeitos dos fármacos , Divisão Celular/efeitos dos fármacos , Células Cultivadas , Meios de Cultura , Técnicas In Vitro , Ratos , Ratos EndogâmicosRESUMO
Three of six siblings presented with sleep apnea between 18 and 26 months of age. Twin females and a male had normal growth and development without antecedent neurologic or apparent metabolic disorder. The females presented at 25 and 27 months respectively with irregular respiration and episodes of apnea. Twin A succumbed to an apneic episode while sleeping. Central sleep apnea was diagnosed in twin B at the Stanford Sleep Clinic. She died following an apneic episode three months after evaluation. The male presented at 18 months with fatal sleep apnea. A fourth child was evaluated for sleep apnea at 7 weeks of age with several hospitalizations before her death at 31 months. She and remaining family members were extensively studied for inherited neurologic disorders including subacute necrotizing encephalomyopathy (SANE, Leigh disease). This family with lethal sleep apnea presents an association with SANE with minimal neurologic signs and symptoms and neuropathologic involvement. Lesions were confined to the respiratory centers of the lower brain stem, making sleep apnea explicable. This child and family members tested positive or borderline for inhibitor substance thiamine triphosphate (TTP). All testing for TTP inhibitor substance was performed in Professor Jack R. Cooper's laboratory, Department of Pharmacology, Yale University School of Medicine, New Haven, Conn. These cases present an interesting and instructive lesson emphasizing the need for extensive evaluation of children with unsuspected sleep apnea with early demise.
Assuntos
Síndromes da Apneia do Sono/genética , Adulto , Criança , Pré-Escolar , Doenças em Gêmeos , Feminino , Humanos , Lactente , Doença de Leigh/complicações , Doença de Leigh/genética , Doença de Leigh/patologia , Masculino , Bulbo/patologia , Linhagem , Centro Respiratório/patologia , Formação Reticular/patologia , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/patologiaRESUMO
Ethanol-induced cytoskeletal abnormalities occur in many cell types, affecting structure and function of the respective organs. When affecting the developing myocyte, damage is responsible for the hypotonicity and congestive heart failure of Fetal Alcohol Syndrome (FAS) infants. To test the hypothesis that ethanol damages myocytes in utero, and determine that damage is not affected by dietary protein manipulations, female Sprague-Dawley rats were fed Leiber-DeCarli diets containing either 10% or 25% protein-derived calories, isocalorically balanced with or without 36% of the total calories containing ethanol. Muscle biopsies from rat pups of the ethanol-fed groups showed disorganized myocyte cytoskeleton: sarcomeric dysplasia with Z-band abnormality, actin in disarray, and granulofilamentous debris. Teratogenic effects of ethanol on myocytes occur in rat pups in utero, supporting the use of this model for studying ethanol effects on the developing cytoskeleton. We report ultrastructural evidence which provides a partial explanation of the mechanism of a well-known clinical phenomenon.
Assuntos
Citoesqueleto/ultraestrutura , Proteínas Alimentares/administração & dosagem , Transtornos do Espectro Alcoólico Fetal/patologia , Deficiência de Proteína/patologia , Citoesqueleto de Actina/ultraestrutura , Animais , Biópsia , Feminino , Microscopia Eletrônica , Hipotonia Muscular/patologia , Músculos/patologia , Gravidez , Ratos , Ratos Endogâmicos , Sarcômeros/ultraestruturaRESUMO
Congenital visceral myofibromatosis is an uncommon disorder characterized by multiple tumors of myofibroblastic origin in the neonatal period. The natural history of the disorder has been well delineated. The myofibroblast is the cell of origin of the tumor. This is a report of a patient in whom multiple mesenchymal tumors occurred in the CNS as well as in other organs. Light and electron microscopic findings of the CNS lesions are similar to those of the somites and viscera.
Assuntos
Neoplasias Encefálicas/patologia , Fibroma/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias da Medula Espinal/patologia , Adulto , Neoplasias Encefálicas/congênito , Neoplasias Encefálicas/ultraestrutura , Feminino , Fibroma/congênito , Fibroma/ultraestrutura , Humanos , Recém-Nascido , Masculino , Microscopia Eletrônica , Neoplasias Primárias Múltiplas/congênito , Neoplasias Primárias Múltiplas/ultraestrutura , Gravidez , Neoplasias da Medula Espinal/congênito , Neoplasias da Medula Espinal/ultraestruturaRESUMO
A unique myopathic process in three flaccid, hypotonic, and weak neonates born to alcoholic mothers was investigated. In utero activity was depressed in all 3 cases. The muscle biopsies showed hypotrophy, dominance of type II fibers, and central nuclei. There was marked sarcomeric dysplasia at the ultrastructural level. Sarcomeres were of variable length and diameters; Z-band material with actin persisted in a coagulum of granulofilamentous debris; the number of myosin filaments was decreased. The degree to which myocytes were affected varied from focal to holocellular dysplasia. The disorder at the ultrastructural level in these damaged muscles from infants with the fetal alcohol syndrome is a unique constellation, warranting the term "fetal alcohol myopathy."