Púrpura. Manifestação de Amiloidose Sistémica Primária

Primary Systemic Amyloidosis (AL) is the most frequent form of systemic amyloidosis and its morbilility is associated with immunoglobulin light chains deposition in vital organs. The mucocutaneous manifestations occur in about 30-40% of the cases and are important in diagnostic suspicion, once they appear in early stages of disease. We report a 71-years-old female patient, with disseminated purpura and cutaneous fragility with 6 months of evolution, accompanied by recent complaints of dysphagy. The first laboratory evaluation didn't show any alterations. The histological and immunohistochemical study of subcutaneous abdominal fat and skin biopsy showed lambda type amyloid protein. In the systemic work-up, we highlight a proteinúria > 1g/24h with Bence Jones proteins and the presence of monoclonal immunoglobulin light chain (lambda type) in serum immunoelectrophoresis. With the diagnosis of primary systemic amyloidosis, treatment with prednisolone and melphalan was started.

Hand Involvement in Ollier Disease and Maffucci Syndrome: a Case Series

Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.

Lesões Inalatórias no Doente Queimado

Inhalation injuries are currently the factor most responsible for mortality in thermally injured patients. Inhalation injuries may occur independently, but generally occur together with skin burn. Smoke inhalation affects all levels of the respiratory system and the extent of the inhalation injury depends on the duration, exposure, amount and toxicity of the fume temperature, concentration and solubility of toxic gases, the occurrence of the accident in a closed space and pre-existing diseases. Smoke inhalation also induces changes in the systemic organs with the need for more fluid for resuscitation. Systemic vasoconstriction, with an elevation in systemic vascular resistance, a fall in myocardial contractility and a great increase in lymphatic flow in soft tissue are the most important changes in systemic organs. On admission of a burn patient there is a high suspicion of inhalation injury when there are signs and symptoms such as hoarseness, strides, dyspnea, carbonaceous sputum, anxiety or disorientation, with or without face burns. The patient with these findings has partial airway obstruction and there is substantial risk complete airway obstruction occurring of secondary to the edema. Patients with suspected inhalation injury should be intubated so as to maintain airway patency and avoid a total obstruction. This group of patients frequently develop respiratory failure with the need for mechanical ventilatory support. Nosocomial infections, sepsis and multiple organ system failure may occur. Late complications of inhalation injury are tracheitis, tracheal stenosis or tracheomalacia and chronic airway disease, which is relatively rare. Early diagnosis of inhalation injury and treatment in a Burn Unit by a group of highly motivated clinicians and a good team of nurses is essential in order to decrease the morbidity and mortality related to inhalation injury.

Lupus and Pregnancy. 15 Years of Experience in a Tertiary Center

This retrospective study was designed to evaluate the outcome of pregnancies in women diagnosed with systemic lupus erythematosus (SLE) followed in a tertiary fetal–maternal center. Data were collected from clinical charts between January 1993 and December 2007, with a total of 136 pregnancies (107 patients). Mean maternal age was 29 years, with the vast majority of patients being Caucasian. Most patients were in remission 6 months prior to pregnancy (93%) and the most frequently affected organs were the skin and joints. Renal lupus accounted for 14% of all cases. Twenty-nine percent of patients were positive for at least one antiphospholid antibody (aPL) and nearly 50% had positive SSa/SSb antibodies. All patients with positive aPL received low-dosage aspirin and low molecular- weight heparin (LMWH). There were no pregnancy complications in more than 50% of cases and hypertensive disease and intrauterine growth restriction were the most common adverse events. There were 125 live births, one neonatal death, eight miscarriages, and three medical terminations of pregnancy. Preterm delivery occurred in 25% of pregnancies. Our results are probably the conjoined result of a multidisciplinary approach together with a systematic management of SLE pregnancies, with most patients keeping their prior SLE medication combined with low-dosage aspirin and LMWH in the presence of aPL.

Appendiceal Mucocele – Unexpected Diagnosis in a Gynecology Department

Appendiceal mucocele is a rare entity, occuring in < 1% among appendicectomies, with a female predominance 4/1 (F/M) and a mean age of more than 50 years. The preoperative diagnosis is difficult; in most cases, it´s an intraoperative finding. In such work, we describe the two clinical cases occurring in last 10 years in our Department. Case 1 - 56 years old, posmenopausal, referred to our Department (02/2004) because an asymptomatic right adnexal septated cystic image, 53x48mm, with hipovascularized septa and a vascularised capsule with low flow resistance (IR 0,57). CA 125 elevated (71,3 U/mL).Exploratory laparotomy: an ovary increased, with a gelatanious consistency and an appendicular enlargement. Extemporaneous examination: a pseudomixoma peritonei, associated with a mucinous appendicular and an ovary tumor. It was performed a radical surgery. The histo-pathological analysis showed a mucinous cystadenoma of the appendix with peritoneal mucinous dissemination involving the ovary. Expectant attitude since the surgery, without clinical and imaging signs of recurrence. Case 2- 62 years old posmenopausal and asymptomatic woman, with a large adnexal mass detected on routine pelvic ultrasound: heterogeneous, 94x84mm without vascularisation signs in its interior. CEA was elevated (41,47U/ml). Exploratory laparotomy (02/2010): enlarged appendix and macroscopically normal pelvic organs. An appendicectomy was performed. The histo-pathological analysis showed a 10cm mucinous cystadenoma of the appendix and signs of localized (visceral peritoneal surface) pseudomyxoma peritonei. Currently she’s clinically well, in an expectant attitude. Despite mucoceles of the appendix are rare, they should be considered in women presenting with abnormal quadrant masses.

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.

Idiopathic Hypocomplementaemic Tubulointerstitial Nephritis

Background: Tubulointerstitial nephritis (TIN) is a common cause of kidney injury typically seen in association with drug exposure, infection or autoimmune diseases. However, TIN with interstitial immune complex deposition, without glomerular injury, is rarely observed. Case: We report a case of a 64-yearold Indian woman admitted for dialysis-requiring renal failure, without involvement of other organs. Urinalysis showed blood 3+ and 24h proteinuria of 1.5 g. Renal ultrasound revealed normal sized kidneys with loss of parenchymal-sinus differentiation. Laboratory tests disclosed low C3, positive ANA but negative anti-dsDNA, SSA and SSB. Serum protein electrophoresis was normal. The renal biopsy showed tubulointerstitial nephritis with positive immunoglobulin staining involving the interstitium and tubular basement membrane with glomerular sparing. The patient started prednisolone (1mg/kg/day) without recovery of the renal function. Conclusion: Idiopathic hypocomplementaemic tubulointerstitial nephritis is a rare disease with few cases described in the literature. To our knowledge this is the first case reported in Portugal.

Diabetes Mellitus as a Risk Factor in Glaucoma's Physiopathology and Surgical Survival Time: A Literature Review

Glaucoma is a multifactorial condition under serious influence of many risk factors. The role of diabetes mellitus (DM) in glaucoma etiology or progression remains inconclusive. Although, the diabetic patients have different healing mechanism comparing to the general population and it has a possible-negative role on surgical outcomes. This review article attempts to analyze the association of both diseases, glaucoma and DM, before and after the surgery. The epidemiological studies, based mainly in population prevalence analyzes, have shown opposite outcomes in time and even in the most recent articles also the association remains inconclusive. On the contrary, the experimental models based on animal induced chronic hyperglycemia have shown an important association of both diseases, explained by common neurodegenerative mechanisms. Diabetic patients have a different wound healing process in the eye viz-a-viz other organs. The healing process is more and it results in lower surgical survival time, higher intraocular pressure (IOP) levels and, therefore, these patients usually need more medication to lower the IOP. Both randomized and nonrandomized retrospective and experimental molecular studies have shown the association between DM and glaucoma. Further studies are needed to get better explanations about outcomes on more recent surgical procedures and with the exponential use of antifibrotics. How to cite this article: Costa L, Cunha JP, Amado D, Pinto LA, Ferreira J. Diabetes Mellitus as a Risk Factor in Glaucoma's Physiopathology and Surgical Survival Time: A Literature Review.

Urinary Tract Effects of HPSE2 Mutations

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS.