[The child with ambiguous genitalia: differential diagnosis after the first month of life].
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Diagnosis, Differential↗
Biomedical subjects
C Spinelli
Publications and source records attributed to C Spinelli.
Incidence at birth and natural history of cryptorchidism: a study of 10,730 consecutive male infants.
Of the 10,730 neonates born in the period 1978-1997 and examined for cryptorchidism (C) at birth, 1387 were pre-term (gestational age <37 wk), and 9343 were full-term. At birth, a total of 737 neonates (6.9%) were cryptorchid, 487 had bilateral C and 250 unilateral C. The C rate of pre-terms was 10 times higher than that of the full-terms (30.1 and 3.4%, respectively). Comparing the two studied decades, a significant decrease of C rate was found in the second decade in full-term neonates. The rates of C at birth were significantly elevated for low birth weight, babies born from mothers with an age <20 or >35 yr, newborns from mothers with A Rh positive and B Rh positive blood group. Of the 737 cryptorchid newborns at birth, 613 (83%) were re-examined after 12 months from the expected date of delivery, and those born in the period 1988-1997 were also re-evaluated at 6 months of life. Late spontaneous descent occurred in 464 cases (75.7%), while 149 (24.3%) were still cryptorchid. The incidence of C at 12 months from the expected date of delivery, after survival curve calculation, in term and pre-term infants, was 1.53 and 7.31%, respectively, in the period 1978-1987, and 1.22 and 3.13% respectively, in the 2nd decade (1988-1997). In the groups also examined at 6 months of life, spontaneous descent occurred almost completely within the first 6 months of life in term infants, but not in pre-terms. No evidence of seasonal cyclicity was found. Medical and/or surgical treatment was generally started within 2-4 yr of age earlier in the second decade of the study. In conclusion, the main risk factor for C at birth and at 12 months of life seems to be pre-term birth and low birth weight. If this is associated itself to a higher risk of infertility too, it remains to be defined.
Adult↗
Long-term monitoring of cell-mediated immunity in disease-free breast cancer patients: a preliminary retrospective study.
In 102 N- and 44 N+ disease-free breast cancer patients, lymphocytic populations and skin reaction of delayed hypersensitivity (SRDH) were monitored up to 266 months after mastectomy to find out whether they were similar or different from control values. In two selected groups of 34 N- and 11 N+ breast cancer patients, the whole 10 year follow-up was divided into three subintervals, each of them lasting 40 months and the time course of lymphocytic populations was evaluated. In the 102 N- patients, mean CD4+, CD8+, CD3+ values were lower (P < 0.01, P < 0.001, P < 0.01, respectively) while CD4+/CD8+ ratio was higher (P < 0.05) than in controls. Fifteen N- breast cancer patients (16%) were anergic compared to 30(32%) of controls (P < 0.05). In the 34 selected N- breast cancer patients soon after mastectomy the mean value of CD4+, CD8+, CD3+ T subpopulations was lower (P < 0.01, P < 0.001, P < 0.01, respectively) than in controls. Successively their mean value increased so that in the last subinterval they were not or were only slightly lower (P n.s., P < 0.05, P < 0.05, respectively) than in controls. In the 44 N+ patients, mean CD4+, CD8+, CD3+ values were lower (P < 0.001, v < 0.05, P < 0.01, respectively) and CD19+ lymphocytes higher (P < 0.001) than in controls. Five N+ breast cancer patients (13%) were anergic compared to 32% of controls (P < 0.05). In the 11 selected N+ breast cancer patients soon after mastectomy, the mean value of CD4+, CD8+ T subpopulations and CD16+56+ cells was significantly lower (P < 0.001, P < 0.001, P < 0.01, respectively) than in controls. Successively their mean value constantly increased so that in the last subinterval, no or slight (P n.s., P < 0.05, P n.s., respectively) significant difference compared to controls occurred. The mean CD4+/CD8+ ratio value of N- patients was significantly higher than in controls. However in the last subinterval, the significance was lower than in the first one (P < 0.05 and P < 0.01, respectively). In the N+ patients, the mean value of CD4+/CD8+ ratio was constant, although not significantly, lower than in controls; however it progressively increased from the first to the last subinterval. Therefore the significance of the difference of the mean CD4+/CD8+ ratio between N- and N+ patients strongly decreased from the first to the last subinterval (P < 0.001 and P < 0.05, respectively). These data indicate that in breast cancer patients, following mastectomy, a significant activation of memory and CD4+ T cells and long-term decrease of the circulating immunocompetent CD4+, CD8+ and CD16+56+ cells occurs. The prolonged disease-free interval observed in the 34 N- and 11 N+ breast cancer patients can be correlated with the restoration of the normal state of cell-mediated immunity.
Adult↗
Hormonal treatment for unilateral inguinal testis: comparison of four different treatments.
BACKGROUND: Hormonal treatment of cryptorchidism has been used since the 30s, but controversies persist on its efficacy. It is also unclear whether there are differences with the use of different hormonal trials. AIMS: To evaluate the efficacy of four hormonal treatments on testicular descent in a homogeneous group of cryptorchid boys. PATIENTS: 155 patients (age 10-48 months) with unilateral inguinal palpable testis were studied. METHODS: The patients were subdivided into four groups according to hormonal treatment: group 1 = hCG [500 IU/week (if the chronological age was <2 years) or 1,000 IU/week (if the chronological age was >2 years) for 6 weeks]; group 2 = hCG + hMG (hCG as in group 1 + hMG 75 IU/week for 6 weeks); group 3 = GnRH (1,200 microg/daily for 28 days); group 4 = GnRH + hCG (1,200 microg/daily for 28 days + 1,500 IU/week for 3 weeks, respectively). The results were evaluated at the end of the treatment period and 6 months later to exclude temporarily positive results. RESULTS: At the end of the hormonal therapy, scrotal testicular descent was present in 30 of 155 boys (success rate 19.3%). Seven testes relapsed during follow-up (23.3%). The long-term success rate was 14.8% (23/155 testes). No significant differences were observed in success rates as well as in relapse rates among the four groups. CONCLUSIONS: Hormonal therapy induced permanent testicular descent in a minority of young cryptorchid boys with inguinal palpable testis. Similar results were obtained with four different trials.
Child, Preschool↗
Cutaneous spreading of parathyroid carcinoma after fine needle aspiration cytology.
BACKGROUND: Ultrasound-guided fine needle aspiration cytology (FNAC) of suspect parathyroid adenomas is sometimes used for the diagnosis of primary hyperparathyroidism (PHPT). FNAC complications are rare or mild. We describe the first case in literature of cutaneous spread of parathyroid carcinoma after FNAC. CASE: A woman underwent a neck ultrasound which revealed a solid hypoechogenic nodule of 1.5 cm at the level of the inferior pole of the right thyroid. In the same time a FNAC of the nodule was performed. Cytology showed no atypical cells. Successively PHPT was diagnosed and a few weeks later the patient had a subcutaneous lump in the same area of FNAC. The patient underwent surgery and histology of the specimen showed a differentiated parathyroid carcinoma. The postoperative course was regular and calcium and parathormone resulted normal. CONCLUSION: The use of FNAC should be carefully assessed in the presence of suspect parathyroid carcinoma, because this could cause a possible diffusion of a parathyroid carcinoma along the needle tract.
Adult↗
The role of tumour markers in improving the accuracy of conventional chest X-ray and liver echography in the post-operative detection of thoracic and liver metastases from breast cancer.
The aim of this retrospective study was to assess the value of a serum tumour marker panel in selecting from among the patients with equivocal chest X-ray (CXR) or liver echography (LE) those with thoracic or liver metastases respectively. Between January 1984 and December 1999, 467 (341 non-relapsed and 126 metastatic) breast cancer patients were followed-up postoperatively. Among the 126 metastatic patients 36 showed thoracic (19 patients) or liver (17 patients) metastases, alone or in conjunction with other organs as the first evidence of distant spread. We focused on this series of 377 patients including 341 non-relapsed plus 36 with liver or thoracic metastases. The patients were followed-up after mastectomy with serial determinations of a panel of CEA-TPA-CA15.3 tumour markers, bone scintigraphy, CXR and LE. Up to December 1999, equivocal CXR occurred in 23 (6.1%) patients of whom 11 (47.8%) developed thoracic metastases; 14 (3.7%) patients showed an equivocal LE of whom 5 developed liver metastases. In the 37 patients with equivocal CXR or equivocal LE prolonged clinical and imaging follow-up over 41 +/- 36 months (mean +/- SD, range 3-163) was used to ascertain the presence or absence of thoracic or liver metastases. In the 23 patients with equivocal CXR the negative and positive predictive values of the tumour marker panel to predict thoracic metastases were 92% and 100% respectively. In the 14 patients with equivocal LE the negative and positive predictive values of the tumour marker panel for prediction of liver metastases were 90% and 100% respectively. This study shows that in breast cancer patients the CEA-TPA-CA15.3 tumour marker panel has a high value for selecting those patients at high risk of developing clinically evident pulmonary or liver metastases from amongst those subjects with equivocal CXR or equivocal LE.
Adult↗
Effect of Bis(guanylhydrazones) on Growth and Polyamine Uptake in Plant Cells.
In the present work the effect of several bis(guanylhydrazones) on the growth of Helianthus tuberosus tuber explants was studied. Different aliphatic congeners of glyoxal bis(guanylhydrazone) were tested. Most of the compounds displayed an inhibitory effect on growth, and a correlation between the structure of the molecule and the inhibitory activity was observed. Experiments carried out with glyoxal bis(guanylhydrazone) and its congeners methyl-, ethylmethyl-, and methylpropylglyoxal bis(guanylhydrazones) show that as the total number of side chain carbon atoms in the molecule increases, the inhibitory potency also increases. A depletion of spermidine levels was also found in the explants treated with ethylmethylglyoxal bis(guanylhydrazone), which turned out to be one of the most potent growth inhibitors. The addition of spermidine caused a significant reversion of the antiproliferative action of glyoxal bis(guanylhydrazone). The effect of these compounds on spermidine uptake in protoplasts isolated from carrot phloem parenchyma was also investigated. Only a slight competition was found when antagonists were present at concentrations 20 times higher than the polyamine, thus suggesting that bis(guanylhydrazones) do not share, at least at low concentrations, the polyamine transport system in plant cells.Key Words. Bis(guanylhydrazones)-Carrot protoplasts-Growth-Helianthus tuberosus-Polyamines-Uptakehttp://link.springer-ny.com/link/service/journals/00344/bibs/18n1p39.html
Journal Article↗
Benign ovarian fibroma associated with free peritoneal fluid and elevated serum CA 125 levels.
This paper reports the clinical case of a patient with ovarian neoplasia, ascites effusion, and elevated serum CA 125 levels (411 U/ml). This condition simulated a malignant pathology on the grounds of preoperative diagnostic examinations. Surgical investigation diagnosed an ovarian fibroma and ascites. Ascites was resolved rapidly and the serum CA 125 levels decreased after surgical neoplasia removal. An ovarian neoplasia associated with ascites effusion and elevated serum CA 125 levels (also in the presence of suspect ecographic and tomographic features) do not necessarily imply a malignant neoplasia.
Ascites↗
Completion total thyroidectomy in children with thyroid cancer secondary to the Chernobyl accident.
OBJECTIVE: To evaluate the usefulness of submitting children with thyroid cancer secondary to nuclear accidents to a completion total thyroidectomy. DESIGN: A case series consisting of patients living and operated on in Belarus whose parents had asked for a clinical evaluation in a western European center. SETTING: A tertiary care referral center. PATIENTS: The conditions of 47 children from Gomel, Belarus, with differentiated thyroid carcinoma following the nuclear accident at Chernobyl, Ukraine, were evaluated at the University of Pisa, Pisa, Italy. In approximately half of the cases, the treatment in Belarus consisted of a hemithyroidectomy. After a complete evaluation, the decision was made to reoperate on 19 of them by performing a completion total thyroidectomy. The preoperative evaluation revealed that 5 (26%) of the 19 patients who had undergone a hemithyroidectomy had unilateral recurrent nerve palsy and that 2 (10.5%) had hypoparathyroidism. INTERVENTIONS: Neck ultrasonography was used for the preoperative localization of thyroid residuals, thyroid nodules, suspicious lymph nodes, and a guided fine-needle aspiration biopsy specimen. The circulating thyroglobulin measurement was obtained before reoperation. An iodine 131 whole-body scan (WBS) was performed and circulating thyroglobulin levels were obtained after completion of the thyroidectomy during withdrawal of levothyroxine sodium therapy. MAIN OUTCOME MEASURE: The number of patients with a recurrence of thyroid cancer and lung or lymph node metastases after the completion total thyroidectomy. RESULTS: The results of the histologic examination were positive for papillary thyroid cancer in 6 (28.6%) of 21 patients, 3 with residual cancer in the remaining thyroid lobe and 3 with metastatic lymph node disease. A posttherapy WBS demonstrated lung metastases in 5 (28%) of 18 patients and lymph node metastases in 6 (33%) of 18 patients; the results of a posttherapy WBS were negative for metastases in 7 (39%) of 18 patients. Hypoparathyroidism developed in 4 (21%) of 19 patients who underwent a completion total thyroidectomy; unilateral laryngeal nerve palsy developed in 1 (5.2%) of these 19 patients. Among 22 children who previously underwent total thyroidectomy in Belarus, a diagnostic WBS showed lung metastases in 10 (45%) of the children and lymph node metastases alone in 3 (14%) of the children; the results of a diagnostic WBS were negative for metastases in 9 (41%) of the children. Statistical analysis showed a nonsignificant (P>.05) difference in the prevalence of lung and lymph node metastases in patients who previously underwent total thyroidectomy compared with patients who underwent completion total thyroidectomy. CONCLUSION: Completion total thyroidectomy allowed for the diagnosis and treatment of recurrent thyroid cancer and lung or lymph node metastases in 61% (11/18) of the patients in whom residual differentiated thyroid carcinoma was not previously recognized.
Adolescent↗
Thyroid carcinoma in intrathoracic goiter.
INTRODUCTION: Most cases of intrathoracic goiter can be managed by cervical incision alone. A thoracic approach may be needed when adhesions or an anomalous blood supply are present or carcinoma is suspected. PATIENTS AND METHODS: Only 44 patients out of 5263 operated on for goiter needed a thoracic incision. A sternotomy was performed in 29 cases and a thoracotomy in 15; a malignancy was present in 9 cases. Symptoms, surgical approach, histology, survival and pTN staging of these 9 patients were reviewed and discussed; no perioperative mortality was observed. DISCUSSION: A thoracic approach is more frequently needed for treatment of intrathoracic thyroid carcinoma as it offers a greater chance of radical excision and better control of intraoperative bleeding. Histologically, thyroid carcinoma in intrathoracic goiter is often anaplastic or rare and has a poor long-term survival rate when compared to cervical forms.
Adult↗
[Surgical management of hereditary medullary carcinoma of the thyroid in patients with "RET" proto-oncogene mutation].
The authors report their results in 64 individuals belonging to 11 families with MEN 2 and familial medullary carcinoma of thyroid (CMT) syndromes. They show amplification and restriction techniques, type, site and incidence of genetic alteration in the observed cases; besides they illustrate the adopted surgical management related to the mutation. They stress the concept that genetic test allows to detect the population with altered gene before laboratory or clinical evidence, with the great advantage to indicate an early surgical approach. If it is shown a multi-organ disease, as in one patient with CMT associated with bilateral pheocromocytoma, the two diseases must be treated during the same operative time.
Adolescent↗
Filgrastim and lack of support of intensive adjuvant chemotherapy for high-risk breast cancer patients.
The capacity of filgrastim to reduce the myelotoxicity of a 16-week intensive chemotherapy regimen has been investigated in 24 operable breast cancer patients with > or = 10 metastatic axillary nodes. Five patients were treated with chemotherapy alone (control group); 19 patients were treated with chemotherapy and filgrastim, 5 microg/kg/day s.c. Six patients in the latter group were treated from day 4 to day 7 (level 1), seven from day 10 to day 13 (level 2), and six from day 4 to day 7 and day 10 to day 13 (level 3). A total of 135 courses were administered: neutropenia was the most severe toxicity, and the prophylactic use of filgrastim does not reduce its severity. Moreover, the dose intensities of antiblastic drugs actually received by the patients were not significantly different in the four study groups. Among the patients treated at level 3, there were three toxic deaths: one patient died because of febrile neutropenia and sepsis, two patients because of ischemic colitis. At a median follow-up of 15 months, 17 patients were alive, and 15 patients were disease free. The use of filgrastim does not ameliorate myelotoxicity and does not allow the administration of the planned doses of antiblastic drugs of a 16-week intensive chemotherapy regimen.
Adult↗
Omeprazole-induced acute interstitial nephritis.
Omeprazole is a proton pump inhibitor widely used for the treatment of peptic ulcer disease. We report a patient presenting nonoliguric acute renal failure following omeprazole treatment. Both eosinophilia and eosinophiluria were observed, and the patient was diagnosed as having drug-induced acute interstitial nephritis. Renal failure spontaneously resolved when omeprazole was discontinued.
Acute Disease↗
[Medullary carcinoma of thyroid gland].
The authors present the characteristic features of medullary carcinoma of thyroid (CMT) and underline the necessity to identify RET proto-oncogene that is the cause of hereditary transmission of CMT. Physiology of C cells and clinical syndromes are reported and the importance of a genetic screening in population at risk is emphasized; this test has shown to be reliable and easy to apply. They report their experience on techniques of amplification and restriction for RET proto-oncogene identification in relatives of patients with MEN or familial CMT syndromes. This study has allowed to recognize a population bearing the oncogene responsible of the disease and to achieve a correct prophylactic therapeutic management.
Carcinoma, Medullary↗
[Thyroid carcinoma in childhood].
Thyroid carcinoma in childhood is very rare. The Authors report the features of this neoplasm versus other period of the life. There were no undifferentiated type of neoplasm in 69 cases. Almost all the tumors were well differentiated epithelial types especially papillary and only few cases were non epithelial differentiated tumors. Prognosis, that is better on childhood than other ages, depends, besides surgical indications (total thyroidectomy with lymphadenectomy for epithelial types of neoplasm to metabolic radiotherapy even if metastatized. Medullary carcinoma that as after associated to other endocrinopaties has the worst prognosis; total thyroidectomy with bilateral lymphadenectomy as not enough to avoid recurrence that does not responds to complementary treatment. Thyroid surgery in the child exposes to a major risk of iatrogenic lesions than the adult because of anatomical characteristics.
Adenocarcinoma, Follicular↗
Percutaneous ethanol injection for thyroid cysts: a word of caution.
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Acute Disease↗
Symptomatic adrenal myelolipoma: therapeutic considerations.
Four cases of symptomatic myelolipoma of the adrenal gland are presented. Three were treated at laparotomy and one with a laparoscopic approach. On the basis of these four cases we discuss the aetiology, pathogenesis, clinical manifestations, diagnosis and treatment of this rare disease. We also report the follow-up of a patient with bilateral myelolipoma, who underwent monolateral excision. We conclude that myelolipoma, if correctly diagnosed, can be treated conservatively with careful follow-up, limiting surgery to symptomatic cases.
Adrenal Gland Neoplasms↗
[The postoperative hemorrhagic complication in thyroid surgery].
Hemorrhage is a complication of thyroid surgery less important than recurrent laryngeal nerve injury or hypoparathyroidism, but extremely dangerous. Hemorrhage may be early or delayed. Early hemorrhage occurs generally in the operating theatre and is made easier by vomiting and coughing after removal of the tracheal tube. For this reason it is indispensable for the surgeon to remain until the patient is awake and carefully control the drainages. Delayed hemorrhage generally occurs some hours after the surgical operation with a swelling of the neck associated with difficulties in the breathing, due to tracheal compression. In our institution, from 1988 to 1992, we performed 1800 surgical operations for thyroid diseases and we observed 9 early hemorrhages and 10 delayed hemorrhages. In all cases we performed reoperation in general anaesthesia. In our series the hemorrhage was due to the vessels of the pre-thyroidal muscles and of the inferior pole, rarely of the superior pole. We had no complications after the reoperation. To prevent this complication, we have to respect some technical aspects: accuracy in the ligature of the blood vessels of the superior and inferior pole; partial section of the pre-thyroidal muscles; to bring the remaining thyroid (in case of subtotal thyroidectomy) near to the trachea with some stitches.
Female↗