Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, characterized by elastic fibers mineralization and fragmentation, and affects the skin, eyes, cardiovascular system, and gastrointestinal system. PXE is caused by mutations in the ABCC6 gene, located on chromosome 16p13.1. We investigated clinical and laboratory three patients with pseudoxanthoma elasticum. All the patients present on dermatological examination yellowish papules, located especially on the neck and axillary area. In case no. 2 the patient presents "cutis laxa" in the axillary area. In case no. 3 the patient presents hyperpigmented spot on right forearm and another maculo-pigmented oval spot located at the base of the left posterior hemithorax. In two cases, the ophthalmologic examination shows angioid streaks. The modifications of elastic fibers (thickened or fragmented) are present in all cases.

Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two clinical groups, uncomplicated (pure spastic paraplegia) or complicated HSP depending on the presence of other neurological features in addition to spastic paraparesis. Inheritance may be autosomal dominant, autosomal recessive or rarely X-linked, but autosomal dominant inheritance is most commonly associated with pure forms of the disease, whereas autosomal recessive HSP shows greater phenotypic variability, including several well-defined syndromes. Genetic studies have revealed as many as 31 different chromosomal HSP loci. We investigated two subjects, brother and sister, who were diagnosed using the criteria for a diagnosis of HSP proposed by Fink (1996), as "definitely affected" with HSP. As some particularities, we noticed an iliopsoas pseudohypertrophy in male patient and a mild atrophy in female, maybe due to degeneration of anterior columns. Family history recorded the presence of same manifestations in relatives. The pedigree of patients revealed some anomalies that could be related with the pathology. Our findings supported the diagnosis of complicated form of HSP in both cases.

This article is focused on the ethical issues raised by the genetic testing and screening of children. We tried to approach a comprehensive discussion of decision making, informed consent, parental and medical responsibility, confidentiality and privacy concerns within pediatric genetic testing contexts, by analysing specific ethical challenges associated with different types of genetic tests. Because young children are not sufficient mature to discern and make their own decision about genetic testing, and the results of such tests could have significant effects on the family members or the child's future mental and social development, it should be established a general consensus about when, how and which type of test is recommended to the child and his/her family. We wish to provide a framework and some references about how to consider these various dilemmas that arise in children genetic testing, in order to reach the most ethical decision and proper solutions for the child, parents and medical specialists.

Charcot-Marie-Tooth (CMT) disease is a group of genetic peripheral neuropathies that is associated with a broad variety of clinical genetic features. Most CMT syndromes are characterized by a progressive muscle weakness and atrophy with a distally pronounced sensory dysfunction. Bone deformities as pes cavus or hammertoes are frequent. The severity of disability varies considerably between different subclasses. Physical examination, electrophysiological testing and family history are current methods to investigate a patient affected by CMT. We used these methods for clinical assessment of two cases. Whenever available molecular genetic testing establishes the certain diagnosis and defines the type of CMT.

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, and dystrophy associated with negative immunostaining of biopsied muscle for merosin. We investigated clinical and laboratory a patient: a girl with merosin-deficient congenital muscular dystrophy type 1A. Clinically the particularity of the case is the association of merosin-negative congenital muscular dystrophy (MN-CMD) with congenital feet deformity. The level of serum creatine kinase is elevated 1045 U/L. Immunohistochemistry show presence of dystrophin, lack of merosin, also the utrophin is normally expressed. Nerve conduction studies are normally, while electromyography suggested a myopathic process with early recruitment and decreased amplitude and duration of response. Magnetic resonance imaging: MRI T1 and MRI T2 show hypointensity and diffuse hyperintensity respectively in the white matter. Supratentorial MRI images showed hypotrophy of the corpus callosum and almost absent cingulate gyrus. In addition, hypophysis is reduced size.

Cardiorespiratory resuscitation (CPR) is a tehnique widely taught in courses of first aid, schools, hospitals, and it has been practiced for 50 years. CPR can be followed by a set of complications: fractured ribs, fractured sternum, aspiration pneumonia, mediastinal hemorrhage, moderate to severe cognitive impairment. The decision of not applying CPR is usually made in the case of patients suffering from a terminal illness, those who are chronically ill, in case of which CPR could potentially prolong life for an indefinite period, but at the cost of worsening the patient's condition due to the accidents arisen during the CPR manoeuvres. If CPR is not recommended, the patient should be informed that this does not mean surrendering fighting against the disease, but simply that CPR wouldn't be in the patient's interest. It is important to inform the patient of all the things which CPR entails or not, so that this latter makes a decision. From a Christian point of view, medicine is seen as a healing art, which implies a close relationship between the doctor and patient and his family, in order to share the suffering; fear of abandonment is an issue of death that can be fought against and defeated.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, characterized by elastic fibers mineralization and fragmentation, and affects the skin, eyes, cardiovascular system, and gastrointestinal system. PXE is caused by mutations in the ABCC6 gene, located on chromosome 16p13.1. We investigated clinical and laboratory three patients with pseudoxanthoma elasticum. All the patients present on dermatological examination yellowish papules, located especially on the neck and axillary area. In case no. 2 the patient presents "cutis laxa" in the axillary area. In case no. 3 the patient presents hyperpigmented spot on right forearm and another maculo-pigmented oval spot located at the base of the left posterior hemithorax. In two cases, the ophthalmologic examination shows angioid streaks. The modifications of elastic fibers (thickened or fragmented) are present in all cases.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, caused by mutations in the NF1 gene. The NF1 gene encoding neurofibromin protein, which is strongly expressed in the nervous system and with the role as a negative regular of the ras proteins signal. All six cases with neurofibromatosis type 1 were clinical and laboratory investigated. The frequently symptoms are "café au lait" spots and neurofibromas. In two cases, the disease is associated with essential hypertension and, in other two cases with kyphoscoliosis. The novo mutations in NF1 gene cause the disease in three cases, and in other three cases, the mutation is inherited (two cases on father side and one case on mother side).

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.

Retroperitoneal sarcomas are rare malignant tumors, which are developing from mesenchymal stem cells residing in muscle, fat, and connective tissues. Underlying the rarity of this kind of tumors in general population, the aim of this paper is to present three cases of retroperitoneal sarcomas operated in Surgical Department of Military Hospital of Craiova (a retroperitoneal liposarcoma, a dedifferentiated liposarcoma and a malignant fibrous histiocytoma). From clinical point of view, we note the poverty of symptoms and non-specificity of these and a great tolerability of retroperitoneal space that offers the possibility for a great development of the tumor. CT-scan and MRI are the best investigations for diagnosis but surgical exploration is the best way for a good evaluation of these tumors. From histological point of view, we try to present new features about these kinds of tumors in order to classify them. Results of surgery correlated with complementary therapies were good without per-operative mortality or postoperative morbidity but we noted a recidive of one tumor (with different histological pattern) 21 months after the surgical intervention. The rarity of retroperitoneal sarcomas, combined with the vast array of histologic subtypes, has complicated our understanding of these tumors and impeded the development of effective therapies.

Frequency of drug-induced liver diseases is increasingly, more than 200 different drugs being incriminated in hepatic disorders. We performed a retrospective study on 65 cases of deaths due to drug intoxications and an experimental model of subacute hepatitis induced by acetaminophen. In our experimental model, we observed various histological lesions: granular degeneration, vascular congestion, lymphoplasmocyte infiltration, cytonecrosis. Histological criteria are not specifically, but very usefully, because based on these criteria we can suspect a drug etiology in hepatic disorders when any other cause is absent. Ultrastructural study of hepatocytes revealed some modifications, in addition to data provided by optical microscopy.